Barry J Byrne

Barry J Byrne, M.D., Ph.D.

Professor And Associate Chair

Department: MD-CHILD HEALTH RES INSTITUTE
Business Phone: (352) 294-5757
Business Email: barry.byrne@ufl.edu

About Barry J Byrne

Dr. Barry Byrne is the Associate Chair of Pediatrics and Director of the Powell Gene Therapy Center at the University of Florida. After obtaining a B.S. degree in Chemistry from Denison University, he pursued his medical education, as well as a Ph.D. in Microbiology and Immunology, at the University of Illinois. He completed his pediatric residency, cardiology fellowship training and post-doctoral training in Biological Chemistry at Johns Hopkins University. Joining the University of Florida in 1997, he has served in a variety of clinical, research and educational roles, and is now the Earl and Christy Powell University Chair in Genetics.

Dr. Byrne is currently conducting numerous clinical research studies for a variety of rare diseases, with specific attention to developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness, cardiac dysfunction and respiratory dysfunction. His research team has made significant contributions to the understanding and treatment of Pompe disease, a type of muscular dystrophy resulting from abnormal glycogen accumulation in the muscle. His current research has focused on developing new therapies using the missing cellular protein or the corrective gene to restore muscle function in Pompe, Duchenne muscular dystrophy and other inherited myopathies.

Accomplishments

UFRF Professor Award
2017-2020 · University of Florida
Faculty Research Prize in Clinical Research
2007 · University of Florida
Research Professor Award
2003-2006 · University of Florida
Clinician Scientist Award
1996 · Johns Hopkins University
Clinician Scientist Award
1994 · Johns Hopkins University
Grant Awardee
1992 · Johns Hopkins University
James Scholar
1983 · University of Illinois

Board Certifications

  • Pediatric Cardiology
    American Board of Pediatrics

Clinical Profile

Specialties
  • Pediatrics
Subspecialties
  • Cardiovascular Disease
  • Pediatric Cardiology
Areas of Interest
  • Autosomal recessive
  • Becker muscular dystrophy
  • Canavan disease
  • Duchenne muscular dystrophy
  • Echocardiogram
  • Friedreich ataxia
  • Gaucher disease
  • Heart CT scan
  • Heart MRI
  • Muscular dystrophy
  • Myasthenia gravis
  • Pediatric Cardiology
  • Pompe Disease
  • Spinal muscular atrophy

Research Profile

Areas of Interest
  • Canavan disease
  • Duchenne muscular dystrophy
  • Friedreich’s ataxia
  • Gene therapy
  • Myotubular myopathy
  • Pompe Disease
  • Rare neuromuscular disorders
  • Spinal muscular atrophy

Publications

2020
Adeno-Associated Virus (AAV) Capsid Stability and Liposome Remodeling During Endo/Lysosomal pH Trafficking.
Viruses. 12(6) [DOI] 10.3390/v12060668. [PMID] 32575696.
2020
The CINRG Becker Natural History Study: Baseline characteristics.
Muscle & nerve. 62(3):369-376 [DOI] 10.1002/mus.27011. [PMID] 32564389.
2020
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
Journal of neurology. 267(10):3038-3053 [DOI] 10.1007/s00415-020-09936-8. [PMID] 32524257.
2020
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Archives of disease in childhood. 105(4):332-338 [DOI] 10.1136/archdischild-2019-317910. [PMID] 31484632.
2020
Advancements in AAV-mediated Gene Therapy for Pompe Disease.
Journal of neuromuscular diseases. 7(1):15-31 [DOI] 10.3233/JND-190426. [PMID] 31796685.
2020
Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases.
Brain sciences. 10(2) [DOI] 10.3390/brainsci10020119. [PMID] 32098339.
2020
Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome.
Molecular genetics and metabolism reports. 25 [DOI] 10.1016/j.ymgmr.2020.100675. [PMID] 33204638.
2020
Micro-dystrophin AAV Vectors Made by Transient Transfection and Herpesvirus System Are Equally Potent in Treating mdx Mouse Muscle Disease.
Molecular therapy. Methods & clinical development. 18:664-678 [DOI] 10.1016/j.omtm.2020.07.004. [PMID] 32775499.
2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.
Neuromuscular disorders : NMD. 29(3):167-186 [DOI] 10.1016/j.nmd.2018.12.004. [PMID] 30770310.
2019
Reduction of Autophagic Accumulation in Pompe Disease Mouse Model Following Gene Therapy.
Current gene therapy. 19(3):197-207 [DOI] 10.2174/1566523219666190621113807. [PMID] 31223086.
2019
Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
Annals of translational medicine. 7(13) [DOI] 10.21037/atm.2019.05.56. [PMID] 31392202.
2019
Neuromuscular Gene Therapy: Catching the Wave of Positive Early Studies Is Expected to Crest in Product Approvals.
Molecular therapy : the journal of the American Society of Gene Therapy. 27(10):1695-1696 [DOI] 10.1016/j.ymthe.2019.09.011. [PMID] 31558355.
2019
Myocardial glucose and fatty acid metabolism is altered and associated with lower cardiac function in young adults with Barth syndrome.
Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology. [DOI] 10.1007/s12350-019-01933-3. [PMID] 31705425.
2019
Maximizing the Benefit of Life-Saving Treatments for Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy Through Newborn Screening: Essential Steps.
JAMA neurology. [DOI] 10.1001/jamaneurol.2019.1206. [PMID] 31107518.
2019
Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.
International journal of molecular sciences. 20(14) [DOI] 10.3390/ijms20143416. [PMID] 31336787.
2019
Systemic Delivery of AAVB1-GAA Clears Glycogen and Prolongs Survival in a Mouse Model of Pompe Disease.
Human gene therapy. 30(1):57-68 [DOI] 10.1089/hum.2018.016. [PMID] 29901418.
2019
Cough Effectiveness and Pulmonary Hygiene Practices in Patients with Pompe Disease.
Lung. 197(1):1-8 [DOI] 10.1007/s00408-018-0171-1. [PMID] 30361764.
2019
Cardiac and skeletal muscle effects in the randomized HOPE-Duchenne trial.
Neurology. 92(8):e866-e878 [DOI] 10.1212/WNL.0000000000006950. [PMID] 30674601.
2019
Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.
Journal of inherited metabolic disease. 42(3):480-493 [DOI] 10.1002/jimd.12094. [PMID] 30924938.
2019
AAV9-TAZ Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome.
Molecular therapy. Methods & clinical development. 13:167-179 [DOI] 10.1016/j.omtm.2019.01.007. [PMID] 30788385.
2019
AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome.
Human gene therapy. 30(2):139-154 [DOI] 10.1089/hum.2018.020. [PMID] 30070157.
2019
AAV Gene Therapy Utilizing Glycosylation-Independent Lysosomal Targeting Tagged GAA in the Hypoglossal Motor System of Pompe Mice.
Molecular therapy. Methods & clinical development. 15:194-203 [DOI] 10.1016/j.omtm.2019.08.009. [PMID] 31660421.
2019
Dynamic respiratory muscle function in late-onset Pompe disease.
Scientific reports. 9(1) [DOI] 10.1038/s41598-019-54314-8. [PMID] 31831753.
2018
Two-Year Longitudinal Changes in Lower Limb Strength and Its Relation to Loss in Function in a Large Cohort of Patients With Duchenne Muscular Dystrophy.
American journal of physical medicine & rehabilitation. 97(10):734-740 [DOI] 10.1097/PHM.0000000000000957. [PMID] 29734234.
2018
Skeletal muscle magnetic resonance biomarkers correlate with function and sentinel events in Duchenne muscular dystrophy.
PloS one. 13(3) [DOI] 10.1371/journal.pone.0194283. [PMID] 29554116.
2018
Safety First: Perspective on Patient-Centered Development of AAV Gene Therapy Products.
Molecular therapy : the journal of the American Society of Gene Therapy. 26(3):669-671 [DOI] 10.1016/j.ymthe.2018.02.009. [PMID] 29503193.
2018
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.
JIMD reports. 41:63-72 [DOI] 10.1007/8904_2018_102. [PMID] 29654548.
2018
Peak oxygen uptake (VO2peak) across childhood, adolescence and young adulthood in Barth syndrome: Data from cross-sectional and longitudinal studies.
PloS one. 13(5) [DOI] 10.1371/journal.pone.0197776. [PMID] 29795646.
2018
Atomic structure of a rationally engineered gene delivery vector, AAV2.5.
Journal of structural biology. 203(3):236-241 [DOI] 10.1016/j.jsb.2018.05.004. [PMID] 29775653.
2018
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice.
Molecular neurobiology. 55(6):5299-5309 [DOI] 10.1007/s12035-017-0763-4. [PMID] 28895054.
2018
A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Muscle & nerve. 57(4):550-560 [DOI] 10.1002/mus.26018. [PMID] 29149770.
2018
Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history.
Muscle & nerve. 58(5):631-638 [DOI] 10.1002/mus.26161. [PMID] 29742798.
2017
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study.
JIMD reports. 32:15-24 [DOI] 10.1007/8904_2016_553. [PMID] 27295193.
2017
Sodium Chloride Enhances Recombinant Adeno-Associated Virus Production in a Serum-Free Suspension Manufacturing Platform Using the Herpes Simplex Virus System.
Human gene therapy methods. 28(1):1-14 [DOI] 10.1089/hgtb.2016.151. [PMID] 28117600.
2017
Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.
Human gene therapy. Clinical development. 28(4):208-218 [DOI] 10.1089/humc.2017.146. [PMID] 29160099.
2017
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome.
Physiological reports. 5(3) [DOI] 10.14814/phy2.13130. [PMID] 28196853.
2017
Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells.
Molecular therapy. Methods & clinical development. 5:76-82 [DOI] 10.1016/j.omtm.2017.03.005. [PMID] 28480307.
2017
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial.
The Lancet. Child & adolescent health. 1(4):265-273 [DOI] 10.1016/S2352-4642(17)30125-6. [PMID] 30169182.
2017
Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity.
Experimental neurology. 287(Pt 2):216-224 [DOI] 10.1016/j.expneurol.2016.07.013. [PMID] 27453480.
2017
Combination therapy for inhibitor reversal in haemophilia A using monoclonal anti-CD20 and rapamycin.
Thrombosis and haemostasis. 117(1):33-43 [DOI] 10.1160/TH16-05-0404. [PMID] 27683758.
2017
Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.
American journal of physiology. Lung cellular and molecular physiology. 312(6):L873-L881 [DOI] 10.1152/ajplung.00568.2016. [PMID] 28336814.
2017
13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease.
Molecular therapy. Methods & clinical development. 7:42-49 [DOI] 10.1016/j.omtm.2017.09.002. [PMID] 29018835.
2017
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.
Orphanet journal of rare diseases. 12(1) [DOI] 10.1186/s13023-017-0693-2. [PMID] 28838325.
2017
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.
Neurology. 89(17):1811-1820 [DOI] 10.1212/WNL.0000000000004570. [PMID] 28972192.
2017
Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α.
Molecular therapy : the journal of the American Society of Gene Therapy. 25(5):1199-1208 [DOI] 10.1016/j.ymthe.2017.02.017. [PMID] 28341561.
2016
Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors.
Human gene therapy. Clinical development. 27(4):152-159 [PMID] 27855487.
View on: PubMed
2016
Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.
Physiological genomics. 48(11):785-794 [DOI] 10.1152/physiolgenomics.00075.2016. [PMID] 27614205.
2016
Targeted approaches to induce immune tolerance for Pompe disease therapy.
Molecular therapy. Methods & clinical development. 3 [DOI] 10.1038/mtm.2015.53. [PMID] 26858964.
2016
Respiratory motor function in individuals with centronuclear myopathies.
Muscle & nerve. 53(2):214-21 [DOI] 10.1002/mus.24899. [PMID] 26351754.
2016
Reply: Respiratory motor function in centronuclear myopathy.
Muscle & nerve. 53(4):660-1 [DOI] 10.1002/mus.24961. [PMID] 26561983.
2016
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene.
Human molecular genetics. 25(23):5142-5147 [DOI] 10.1093/hmg/ddw323. [PMID] 27658936.
2016
Neuropathology in respiratory-related motoneurons in young Pompe (Gaa(-/-)) mice.
Respiratory physiology & neurobiology. 227:48-55 [DOI] 10.1016/j.resp.2016.02.007. [PMID] 26921786.
2016
Generation and characterization of anti-Adeno-associated virus serotype 8 (AAV8) and anti-AAV9 monoclonal antibodies.
Journal of virological methods. 236:105-110 [DOI] 10.1016/j.jviromet.2016.07.009. [PMID] 27424005.
2016
Diaphragm Pacing as a Rehabilitative Tool for Patients With Pompe Disease Who Are Ventilator-Dependent: Case Series.
Physical therapy. 96(5):696-703 [DOI] 10.2522/ptj.20150122. [PMID] 26893511.
2016
Copackaged AAV9 Vectors Promote Simultaneous Immune Tolerance and Phenotypic Correction of Pompe Disease.
Human gene therapy. 27(1):43-59 [DOI] 10.1089/hum.2015.103. [PMID] 26603344.
2016
An injectable capillary-like microstructured alginate hydrogel improves left ventricular function after myocardial infarction in rats.
International journal of cardiology. 220:149-54 [DOI] 10.1016/j.ijcard.2016.06.158. [PMID] 27379917.
2016
Altered activation of the diaphragm in late-onset Pompe disease.
Respiratory physiology & neurobiology. 222:11-5 [DOI] 10.1016/j.resp.2015.11.013. [PMID] 26612101.
2016
A scalable method for the production of high-titer and high-quality adeno-associated type 9 vectors using the HSV platform.
Molecular therapy. Methods & clinical development. 3 [DOI] 10.1038/mtm.2016.31. [PMID] 27222839.
2016
Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort.
Annals of neurology. 79(4):535-47 [DOI] 10.1002/ana.24599. [PMID] 26891991.
2015
Gene Therapy: Strategies to Treat Motor Unit Dysfunction.
Journal of neuromuscular diseases. 2(s1) [PMID] 27858609.
View on: PubMed
2015
Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.
Journal of neuromuscular diseases. 2(s1):S61-S62 [PMID] 27858651.
View on: PubMed
2015
Stimulation of Respiratory Motor Output and Ventilation in a Murine Model of Pompe Disease by Ampakines.
American journal of respiratory cell and molecular biology. 53(3):326-35 [DOI] 10.1165/rcmb.2014-0374OC. [PMID] 25569118.
2015
Perspectives on best practices for gene therapy programs.
Human gene therapy. 26(3):127-33 [DOI] 10.1089/hum.2014.147. [PMID] 25654329.
2015
Peripheral nerve and neuromuscular junction pathology in Pompe disease.
Human molecular genetics. 24(3):625-36 [DOI] 10.1093/hmg/ddu476. [PMID] 25217571.
2015
Oral delivery of Acid Alpha Glucosidase epitopes expressed in plant chloroplasts suppresses antibody formation in treatment of Pompe mice.
Plant biotechnology journal. 13(8):1023-32 [DOI] 10.1111/pbi.12413. [PMID] 26053072.
2015
Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning.
Human gene therapy. Clinical development. 26(3):185-93 [DOI] 10.1089/humc.2015.068. [PMID] 26390092.
2015
Adeno-Associated Virus Type 2 and Hepatocellular Carcinoma?
Human gene therapy. 26(12):779-81 [DOI] 10.1089/hum.2015.29014.kib. [PMID] 26690810.
2015
Correcting Neuromuscular Deficits With Gene Therapy in Pompe Disease.
Annals of neurology. 78(2):222-34 [DOI] 10.1002/ana.24433. [PMID] 25925726.
2015
Comparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe mice.
Molecular therapy. Methods & clinical development. 2 [DOI] 10.1038/mtm.2015.7. [PMID] 26029718.
2015
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency.
Molecular therapy : the journal of the American Society of Gene Therapy. 23(10):1572-81 [DOI] 10.1038/mt.2015.122. [PMID] 26137853.
2015
BAFF blockade prevents anti-drug antibody formation in a mouse model of Pompe disease.
Clinical immunology (Orlando, Fla.). 158(2):140-7 [DOI] 10.1016/j.clim.2015.03.022. [PMID] 25842186.
2015
Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction.
Muscle & nerve. 51(6):877-83 [DOI] 10.1002/mus.24444. [PMID] 25186912.
2015
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome.
Journal of inherited metabolic disease. 38(5):915-22 [DOI] 10.1007/s10545-015-9834-8. [PMID] 25860817.
2014
Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector.
Human gene therapy. 25(3):189-98 [DOI] 10.1089/hum.2013.170. [PMID] 24251946.
2014
Sustained correction of motoneuron histopathology following intramuscular delivery of AAV in pompe mice.
Molecular therapy : the journal of the American Society of Gene Therapy. 22(4):702-12 [DOI] 10.1038/mt.2013.282. [PMID] 24336173.
2014
Selective Knockout of Acid Alpha-Glucosidase Gaa Gene Expression in the Medulla Alters Breathing
The FASEB's Journal. 28(1, S)
2014
New mechanistic and therapeutic targets for pediatric heart failure: report from a National Heart, Lung, and Blood Institute working group.
Circulation. 130(1):79-86 [DOI] 10.1161/CIRCULATIONAHA.113.007980. [PMID] 24982119.
2014
Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study.
PloS one. 9(9) [DOI] 10.1371/journal.pone.0106435. [PMID] 25203313.
2014
Copackaging of multiple adeno-associated viral vectors in a single production step.
Human gene therapy methods. 25(5):269-76 [DOI] 10.1089/hgtb.2014.055. [PMID] 25143183.
2014
Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS.
Neurology. 83(11):974-80 [DOI] 10.1212/WNL.0000000000000775. [PMID] 25098537.
2014
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
PloS one. 9(6) [DOI] 10.1371/journal.pone.0098336. [PMID] 24897114.
2014
Acid Alpha-Glucosidase Gene Replacement Therapy To the Diaphragm Remodels Ventilatory Function in Severe Pompe Disease
The FASEB's Journal. 28(1, S)
2014
A simplified purification protocol for recombinant adeno-associated virus vectors.
Molecular therapy. Methods & clinical development. 1 [DOI] 10.1038/mtm.2014.34. [PMID] 26015974.
2014
Charting a clear path: the ASGCT Standardized Pathways Conference.
Molecular therapy : the journal of the American Society of Gene Therapy. 22(7):1235-1238 [DOI] 10.1038/mt.2014.95. [PMID] 24981438.
2013
A Phase 2a Study To Investigate Drug-Drug Interactions Between Escalating Doses of At2220 (Duvoglustat Hydrochloride) and Acid Alfa-Glucosidase in Subjects With Pompe Disease
Molecular Genetics and Metabolism. 108(2) [DOI] 10.1016/j.ymgme.2012.11.131.
2013
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases.
Molecular therapy : the journal of the American Society of Gene Therapy. 21(2):266-8 [DOI] 10.1038/mt.2013.4. [PMID] 23369965.
2013
The respiratory neuromuscular system in Pompe disease.
Respiratory physiology & neurobiology. 189(2):241-9 [DOI] 10.1016/j.resp.2013.06.007. [PMID] 23797185.
2013
The Importance of Targeting the Central Nervous System for Treatment of Respiratory Insufficiency in Pompe Disease
Molecular Genetics and Metabolism. 108(2) [DOI] 10.1016/j.ymgme.2012.11.089.
2013
Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome.
Journal of inherited metabolic disease. 36(1):91-101 [DOI] 10.1007/s10545-012-9486-x. [PMID] 22580961.
2013
Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy.
Radiology. 269(1):198-207 [DOI] 10.1148/radiol.13121948. [PMID] 23696684.
2013
Restoration of the Motor and Behavior Phenotype With Aav9 in Aromatic L-Amino Acid Decarboxylase Deficiency Mice
Molecular Therapy. 21
2013
Respiratory Function in a Canine Model of X-Linked Myotubular Myopathy Following Regional Limb Infusion With Recombinant Aav8-Mtm1
Molecular Therapy. 21
2013
Pom-001 Phase 1/2 Study of Bmn 701, Gilt-Tagged Recombinant Human (Rh) Gaa in Late-Onset Pompe Disease: Initial Experience in 22 Patients
Molecular Genetics and Metabolism. 108(2) [DOI] 10.1016/j.ymgme.2012.11.048.
2013
Phase I/II trial of adeno-associated virus-mediated alpha-glucosidase gene therapy to the diaphragm for chronic respiratory failure in Pompe disease: initial safety and ventilatory outcomes.
Human gene therapy. 24(6):630-40 [DOI] 10.1089/hum.2012.250. [PMID] 23570273.
2013
Pathway for approval of a gene therapy orphan product: treading new ground.
Molecular therapy : the journal of the American Society of Gene Therapy. 21(8):1465-6 [DOI] 10.1038/mt.2013.157. [PMID] 23903569.
2013
One Year Outcomes of Diaphragm Gene Therapy in Ventilator Dependent Children With Pompe Disease
Molecular Genetics and Metabolism. 108(2) [DOI] 10.1016/j.ymgme.2012.11.047.
2013
Magnetic Resonance Imaging and Spectroscopy To Evaluate Muscle Involvement in Pompe Disease
Molecular Genetics and Metabolism. 108(2) [DOI] 10.1016/j.ymgme.2012.11.059.
2013
Magnetic Resonance Imaging and Spectroscopy Detect Changes With Age, Corticosteroid Treatment, and Functional Progression in Dmd
Neuromuscular Disorders. 23(9-10) [DOI] 10.1016/j.nmd.2013.06.599.
2013
Preclinical toxicology and biodistribution studies of recombinant adeno-associated virus 1 human acid α-glucosidase.
Human gene therapy. Clinical development. 24(3):127-33 [DOI] 10.1089/humc.2013.147. [PMID] 24021025.
2013
Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease.
Molecular therapy : the journal of the American Society of Gene Therapy. 21(9):1661-7 [DOI] 10.1038/mt.2013.96. [PMID] 23732990.
2013
Magnetic Resonance Imaging (Mri) To Evaluate the Effect of Enzyme Replacement Therapy in Late Onset Pompe Disease (Lopd)
Neuromuscular Disorders. 23(9-10) [DOI] 10.1016/j.nmd.2013.06.654.
2013
Acid Alpha-Glucosidase Gene Replacement Therapy To the Diaphragm in Ventilator-Dependent Pompe Disease: One-Year Respiratory Motor Outcomes
Molecular Therapy. 21:S23-S24
2013
Adeno-associated virus-mediated gene therapy for metabolic myopathy.
Human gene therapy. 24(11):928-36 [DOI] 10.1089/hum.2013.2514. [PMID] 24164240.
2013
Altered glycosylation of platelet-derived von Willebrand factor confers resistance to ADAMTS13 proteolysis.
Blood. 122(25):4107-10 [DOI] 10.1182/blood-2013-04-496851. [PMID] 24106205.
2013
B and T Cell Immunomodulation Attenuates Anaphylaxis in a Novel Mouse Model of Pompe Disease
Molecular Therapy. 21
2013
B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.
The Journal of pediatrics. 163(3):847-54.e1 [DOI] 10.1016/j.jpeds.2013.03.002. [PMID] 23601496.
2013
Clinical Trial Readiness for Gene Replacement To the Diaphragm: Translational Respiratory Endpoints in Ventilator-Dependent Neuromuscular Diseases
Molecular Therapy. 21
2013
Aav9 Vector Encoding Hgaa Improves Synaptic Pathology of the Neuromuscular Junction in Pompe Disease
Neuromuscular Disorders. 23(9-10) [DOI] 10.1016/j.nmd.2013.06.659.
2013
Fatigue and Motor Gains in Children With Pompe Disease Undergoing Gene Replacement Therapy for Chronic Ventilatory Failure
Molecular Genetics and Metabolism. 108(2):S74-S75 [DOI] 10.1016/j.ymgme.2012.11.196.
2013
Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients
Molecular Therapy. 21
2013
Gene therapy for rare diseases: summary of a National Institutes of Health workshop, September 13, 2012.
Human gene therapy. 24(4):355-62 [DOI] 10.1089/hum.2013.064. [PMID] 23517518.
2013
Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice.
The Journal of biological chemistry. 288(3):1428-38 [DOI] 10.1074/jbc.M112.438663. [PMID] 23188827.
2013
Diaphragm Pacing Augments Ventilatory Function in Pompe Disease
Molecular Genetics and Metabolism. 108(2) [DOI] 10.1016/j.ymgme.2012.11.232.
2012
High Dose Rituximab Pretreatment in a New Human Cd2O-Gaa-/- Mouse Model Causes Complete B-Cell Depletion and Reduction in Effector and Memory T-Cell Activation
Molecular Genetics and Metabolism. 105(2) [DOI] 10.1016/j.ymgme.2011.11.120.
2012
Mapping the T helper cell response to acid α-glucosidase in Pompe mice.
Molecular genetics and metabolism. 106(2):189-95 [DOI] 10.1016/j.ymgme.2012.03.009. [PMID] 22494547.
2012
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy.
Neuromuscular disorders : NMD. 22 Suppl 2:S111-21 [DOI] 10.1016/j.nmd.2012.05.013. [PMID] 22980762.
2012
Phase I/Ii Trial of Adeno-Associated Virus Acid-Alpha-Glucosidase (Aav-Gaa) Diaphragm Gene Therapy for Ventilatory Failure in Pompe Disease
Molecular Genetics and Metabolism. 105(2) [DOI] 10.1016/j.ymgme.2011.11.039.
2012
Pom-001 Phase 1/2 Study of Bmn 701, Gilt-Tagged Recombinant Human (Rh) Gaa in Late-Onset Pompe Disease: Preliminary Report
Molecular Genetics and Metabolism. 105(2) [DOI] 10.1016/j.ymgme.2011.11.040.
2012
Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9.
Human gene therapy methods. 23(2):148-56 [DOI] 10.1089/hgtb.2012.009. [PMID] 22693957.
2012
Structural insight into the unique properties of adeno-associated virus serotype 9.
Journal of virology. 86(12):6947-58 [DOI] 10.1128/JVI.07232-11. [PMID] 22496238.
2012
Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice.
Molecular therapy : the journal of the American Society of Gene Therapy. 20(1):21-7 [DOI] 10.1038/mt.2011.214. [PMID] 22008916.
2012
Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy.
Science translational medicine. 4(162) [DOI] 10.1126/scitranslmed.3004327. [PMID] 23197572.
2012
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
American journal of medical genetics. Part A. 158A(11):2726-32 [DOI] 10.1002/ajmg.a.35609. [PMID] 23045169.
2012
Transient B cell depletion or improved transgene expression by codon optimization promote tolerance to factor VIII in gene therapy.
PloS one. 7(5) [DOI] 10.1371/journal.pone.0037671. [PMID] 22655063.
2012
Signs of progress in gene therapy for muscular dystrophy also warrant caution.
Molecular therapy : the journal of the American Society of Gene Therapy. 20(2):249-51 [DOI] 10.1038/mt.2011.307. [PMID] 22297820.
2012
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Archives of ophthalmology (Chicago, Ill. : 1960). 130(1):9-24 [DOI] 10.1001/archophthalmol.2011.298. [PMID] 21911650.
2012
A Novel Phase 2a Study Design To Investigate Drug-Drug Interactions Between Escalating Doses of At2220 (Duvoglustat Hydrochloride) and Acid Alpha-Glucosidase in Subjects With Pompe Disease
Neuromuscular Disorders. 22(9-10) [DOI] 10.1016/j.nmd.2012.06.165.
2012
Gene therapy approaches for lysosomal storage disease: next-generation treatment.
Human gene therapy. 23(8):808-15 [DOI] 10.1089/hum.2012.140. [PMID] 22794786.
2012
A new approach to winning: insulin-like growth factor-I signaling in competitive sport.
Human gene therapy. 23(2):139-40 [DOI] 10.1089/hum.2012.2500. [PMID] 22324821.
2012
Gene therapy for aromatic L-amino acid decarboxylase deficiency.
Science translational medicine. 4(134) [DOI] 10.1126/scitranslmed.3003640. [PMID] 22593174.
2012
An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery.
Genetic vaccines and therapy. 10(1) [DOI] 10.1186/1479-0556-10-3. [PMID] 22709483.
2012
An Injectable Acellular Capillary Hydrogel Improves Left Ventricular Function After Myocardial Infarction
Journal of the American College of Cardiology. 59
2012
An Ongoing Phase 2a Study To Investigate Drug-Drug Interactions Between Escalating Doses of At2220 (Duvoglustat Hydrochloride) and Acid Alpha Glucosidase in Subjects With Pompe Disease – Preliminary Results
Neuromuscular Disorders. 22(9-10) [DOI] 10.1016/j.nmd.2012.06.164.
2012
A degradable, bioactive, gelatinized alginate hydrogel to improve stem cell/growth factor delivery and facilitate healing after myocardial infarction.
Medical hypotheses. 79(5):673-7 [DOI] 10.1016/j.mehy.2012.08.006. [PMID] 22939314.
2012
An Ongoing Phase 2a Study To Investigate the Effect of At2220 (Duvoglustat Hcl) On the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects With Pompe Disease: Preliminary Results
Journal of Inherited Metabolic Disease. 35
2012
Blunted Ventilatory Response To Central Nervous Stimulation in a Canine Model of X-Linked Myotubular Myopathy
Molecular Therapy. 20
2012
Clinical Methods of Intramuscular Diaphragm Injections for Gene Therapy
Molecular Therapy. 20:S174-S175
2012
Diffuse Disease of the Myocardium: Radiologic-Pathologic Correlation
American Journal of Roentgenology. 198
2012
An Ongoing Phase 2a Study To Investigate the Effect of At2220 (Duvoglustat Hcl) On the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects With Pompe Disease: Preliminary Results
Journal of Inherited Metabolic Disease. 35
2011
A simple method to increase the transduction efficiency of single-stranded adeno-associated virus vectors in vitro and in vivo.
Human gene therapy. 22(5):633-40 [DOI] 10.1089/hum.2010.243. [PMID] 21219084.
2011
AAV vectors for cardiac gene transfer: experimental tools and clinical opportunities.
Molecular therapy : the journal of the American Society of Gene Therapy. 19(9):1582-90 [DOI] 10.1038/mt.2011.124. [PMID] 21792180.
2011
AAV6-mediated gene silencing fALS short.
Molecular therapy : the journal of the American Society of Gene Therapy. 19(2):231-3 [DOI] 10.1038/mt.2010.306. [PMID] 21289637.
2011
Characterization of a transgenic short hairpin RNA-induced murine model of Tafazzin deficiency.
Human gene therapy. 22(7):865-71 [DOI] 10.1089/hum.2010.199. [PMID] 21091282.
2011
Clinical Manifestations of Heterozygous Expression of a Mutation That Causes Glycogen Storage Disease Type Ia in Dogs
Journal of Veterinary Internal Medicine. 25:731-732
2011
Design of a Multi-Center Study To Examine Skeletal Muscles of Children With Duchenne Muscular Dystrophy Using Mri/Mrs
Neuromuscular Disorders. 21(9-10):653-654 [DOI] 10.1016/j.nmd.2011.06.801.
2011
Effect of intracoronary delivery of autologous bone marrow mononuclear cells 2 to 3 weeks following acute myocardial infarction on left ventricular function: the LateTIME randomized trial.
JAMA. 306(19):2110-9 [DOI] 10.1001/jama.2011.1670. [PMID] 22084195.
2011
Glycogen storage disease type Ia in canines: a model for human metabolic and genetic liver disease.
Journal of biomedicine & biotechnology. 2011 [DOI] 10.1155/2011/646257. [PMID] 21318173.
2011
Immune Modulation in Early Onset Pompe Disease
Molecular Genetics and Metabolism. 102(2):S31-S32 [DOI] 10.1016/j.ymgme.2010.11.107.
2011
Hypoglossal neuropathology and respiratory activity in pompe mice.
Frontiers in physiology. 2 [DOI] 10.3389/fphys.2011.00031. [PMID] 21747768.
2011
The Pompe Registry: Baseline Data From the First Five Years
Molecular Genetics and Metabolism. 102(2) [DOI] 10.1016/j.ymgme.2010.11.083.
2011
Structural studies of adeno-associated virus serotype 8 capsid transitions associated with endosomal trafficking.
Journal of virology. 85(22):11791-9 [DOI] 10.1128/JVI.05305-11. [PMID] 21900159.
2011
Raav1 Vector-Mediated Expression of Tafazzin in Patient Fibroblasts and Murine Model of Barth Syndrome
Molecular Therapy. 19
2011
Prevention and Reversal of Antibody Responses Against Factor IX in Gene Therapy for Hemophilia B.
Frontiers in microbiology. 2 [DOI] 10.3389/fmicb.2011.00244. [PMID] 22279442.
2011
The Heterogeneity of Pompe Disease: Early Data On Genotype From the Pompe Registry
Molecular Genetics and Metabolism. 102(2):S24-S25 [DOI] 10.1016/j.ymgme.2010.11.084.
2011
Pompe Disease: Design, Methodology, and Early Findings From the Pompe Registry (Vol 103, Pg 1, 2011)
Molecular Genetics and Metabolism. 104(3) [DOI] 10.1016/j.ymgme.2011.06.005.
2011
Pompe disease gene therapy.
Human molecular genetics. 20(R1):R61-8 [DOI] 10.1093/hmg/ddr174. [PMID] 21518733.
2011
Next Generation Treatment of Pompe Disease Using Systemic Gene Transfer With Aav9
Molecular Genetics and Metabolism. 102(2) [DOI] 10.1016/j.ymgme.2010.11.062.
2011
Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.
American journal of physiology. Heart and circulatory physiology. 301(5):H2122-9 [DOI] 10.1152/ajpheart.00479.2010. [PMID] 21873497.
2011
Pompe disease: design, methodology, and early findings from the Pompe Registry.
Molecular genetics and metabolism. 103(1):1-11 [DOI] 10.1016/j.ymgme.2011.02.004. [PMID] 21439876.
2010
LateTIME: a phase-II, randomized, double-blinded, placebo-controlled, pilot trial evaluating the safety and effect of administration of bone marrow mononuclear cells 2 to 3 weeks after acute myocardial infarction.
Texas Heart Institute journal. 37(4):412-20 [PMID] 20844613.
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2010
Tracking Pompe Disease Symptoms in a Broad Patient Population Through the Pompe Registry: a Comparison Between Patients in the Asia-Pacific Region and the Rest of the World
Clinical Therapeutics. 32:S75-S76
2010
The effect of DNA-dependent protein kinase on adeno-associated virus replication.
PloS one. 5(12) [DOI] 10.1371/journal.pone.0015073. [PMID] 21188139.
2010
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
Annals of neurology. 68(5):629-38 [DOI] 10.1002/ana.22251. [PMID] 21031578.
2010
Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.
Circulation. 122(11):1130-3 [DOI] 10.1161/CIRCULATIONAHA.110.950089. [PMID] 20837938.
2010
PRX-08066, a novel 5-hydroxytryptamine receptor 2B antagonist, reduces monocrotaline-induced pulmonary arterial hypertension and right ventricular hypertrophy in rats.
The Journal of pharmacology and experimental therapeutics. 334(2):364-72 [DOI] 10.1124/jpet.109.165001. [PMID] 20430844.
2010
Intramyocardial injection of autologous bone marrow mononuclear cells for patients with chronic ischemic heart disease and left ventricular dysfunction (First Mononuclear Cells injected in the US [FOCUS]): Rationale and design.
American heart journal. 160(2):215-23 [DOI] 10.1016/j.ahj.2010.03.029. [PMID] 20691824.
2010
Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease.
Molecular therapy : the journal of the American Society of Gene Therapy. 18(3):502-10 [DOI] 10.1038/mt.2009.305. [PMID] 20104213.
2010
Expression of terminal alpha2-6-linked sialic acid on von Willebrand factor specifically enhances proteolysis by ADAMTS13.
Blood. 115(13):2666-73 [DOI] 10.1182/blood-2009-09-241547. [PMID] 19965639.
2010
Diagnosis of Pompe Disease: Timing and Methods Used as Reported To the Pompe Registry
Clinical Therapeutics. 32
2010
Clinical Signs and Symptoms of Pompe Disease in 143 Infantile-Onset and 424 Late-Onset Patients: a Report From the Pompe Registry
Clinical Therapeutics. 32
2010
Characterization of a recombinant adeno-associated virus type 2 Reference Standard Material.
Human gene therapy. 21(10):1273-85 [DOI] 10.1089/hum.2009.223. [PMID] 20486768.
2010
Anti-Cd20 To Control Antibody Formation Against Fviii in Gene and Protein Replacement Therapy
Blood. 116:313-314
2010
An Exploratory Analysis of Scoliosis in 182 Children and Adults With Pompe Disease From the Pompe Registry
Clinical Therapeutics. 32
2010
Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia.
Human gene therapy. 21(7):903-10 [DOI] 10.1089/hum.2009.157. [PMID] 20163245.
2009
Production, purification and preliminary X-ray crystallographic studies of adeno-associated virus serotype 9.
Acta crystallographica. Section F, Structural biology and crystallization communications. 65(Pt 7):715-8 [DOI] 10.1107/S1744309109021460. [PMID] 19574648.
2009
Psychosocial Functioning in Youth with Barth Syndrome.
Children's health care : journal of the Association for the Care of Children's Health. 38(2):137-156 [PMID] 20808735.
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2009
Rapid Raav-Mediated Improvement of Respiratory Function in An Animal Model of Pompe Disease
Molecular Therapy. 17
2009
Rationale and design for TIME: A phase II, randomized, double-blind, placebo-controlled pilot trial evaluating the safety and effect of timing of administration of bone marrow mononuclear cells after acute myocardial infarction.
American heart journal. 158(3):356-63 [DOI] 10.1016/j.ahj.2009.06.009. [PMID] 19699857.
2009
Treatment Strategies for Pompe Disease: Lessons From Preclincal and Clinical Studies
Molecular Genetics and Metabolism. 96(2) [DOI] 10.1016/j.ymgme.2008.11.022.
2009
Tolerance induction to cytoplasmic beta-galactosidase by hepatic AAV gene transfer: implications for antigen presentation and immunotoxicity.
PloS one. 4(8) [DOI] 10.1371/journal.pone.0006376. [PMID] 19652717.
2009
Preclinical Toxicology and Biodistribution Studies of Recombinant Adeno-Associated Virus 1 (Ravv1) Human Acid Alpha-Flucosidase (Gaa) in Nzw Rabbits By Intrathoracic Direct Injection in the Diaphragm
Molecular Therapy. 17
2009
Vision 1 year after gene therapy for Leber’s congenital amaurosis.
The New England journal of medicine. 361(7):725-7 [DOI] 10.1056/NEJMc0903652. [PMID] 19675341.
2009
Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy.
Proceedings of the National Academy of Sciences of the United States of America. 106(38):16363-8 [DOI] 10.1073/pnas.0904514106. [PMID] 19706466.
2009
Novel Adhesive Glove Device Use Results in Improved Intra-Arrest Hemodynamics and Post-Arrest Cardiac Function With Active Compression-Decompression Cpr in a Swine Model of Cardiac Arrest
Critical Care Medicine. 37
2009
Neural deficits contribute to respiratory insufficiency in Pompe disease.
Proceedings of the National Academy of Sciences of the United States of America. 106(23):9419-24 [DOI] 10.1073/pnas.0902534106. [PMID] 19474295.
2009
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.
Annals of neurology. 66(3):290-7 [DOI] 10.1002/ana.21732. [PMID] 19798725.
2009
Administration of Raav2/8 and Raav2/1 Vectors Mediates Sustained Correction of a Canine Model of Glycogen Storage Disease Type Ia
Molecular Therapy. 17
2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics. 11(3):210-9 [DOI] 10.1097/GIM.0b013e31819d0996. [PMID] 19287243.
2009
Clinical Signs and Symptoms of Pompe Disease in 120 Infantile-Onset and 373 Late-Onset Patients: a Report From the Pompe Registry
Molecular Genetics and Metabolism. 96(2) [DOI] 10.1016/j.ymgme.2008.11.076.
2009
Development of An Improved Assay for Measuring Gaa Enzyme Activity in Ficoll-Isolated Peripheral Blood Mononuclear Cells
Molecular Genetics and Metabolism. 96(2) [DOI] 10.1016/j.ymgme.2008.11.114.
2009
Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.
Human gene therapy. 20(9):999-1004 [DOI] 10.1089/hum.2009.086. [PMID] 19583479.
2009
Analysis of regional congenital cardiac surgical outcomes in Florida using the Society of Thoracic Surgeons Congenital Heart Surgery Database.
Cardiology in the young. 19(4):360-9 [DOI] 10.1017/S1047951109990151. [PMID] 19575843.
2009
Innovative vector design: cross-packaged, self-complementary and now trans-splicing AAV vectors.
Human gene therapy. 20(11):1224-5 [DOI] 10.1089/hum.2009.1020. [PMID] 20374097.
2009
Intracardiac foreign body in a dog.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology. 11(1):53-8 [DOI] 10.1016/j.jvc.2009.03.002. [PMID] 19423415.
2009
Large-scale adeno-associated viral vector production using a herpesvirus-based system enables manufacturing for clinical studies.
Human gene therapy. 20(8):796-806 [DOI] 10.1089/hum.2009.094. [PMID] 19569968.
2009
Improved Brain Blood Flow During Acd-Cpr, Using a Novel Device for Active Chest Decompression in Swine Model of Cardiac Arrest
Circulation. 120
2008
Pharmacological Chaperone Therapy for Pompe Disease: Phase 1 Clinical Trials and Ex Vivo Response Study Results
Neuromuscular Disorders. 18(9-10) [DOI] 10.1016/j.nmd.2008.06.266.
2008
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Human gene therapy. 19(10):979-90 [DOI] 10.1089/hum.2008.107. [PMID] 18774912.
2008
Tissue specific promoters improve specificity of AAV9 mediated transgene expression following intra-vascular gene delivery in neonatal mice.
Genetic vaccines and therapy. 6 [DOI] 10.1186/1479-0556-6-13. [PMID] 18811960.
2008
The Pompe Registry: Tracking Pompe’S Disease Symptoms in a Broad Patient Population
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2008
The Pompe Registry: Tracking Pompe Disease Symptoms in a Broad Patient Population
Neuromuscular Disorders. 18(9-10) [DOI] 10.1016/j.nmd.2008.06.353.
2008
The Pompe Registry: Centralized Data Collection To Track the Natural Course of Pompe Disease.
Molecular Genetics and Metabolism. 93
2008
The Pompe Registry: Centralized Data Collection To Track the Natural Course of Pompe Disease.
Molecular Genetics and Metabolism. 93
2008
Relative persistence of AAV serotype 1 vector genomes in dystrophic muscle.
Genetic vaccines and therapy. 6 [DOI] 10.1186/1479-0556-6-14. [PMID] 18854054.
2008
Identification of New Aav Vector Pseudotypes Suitable for Small Intestine and Colon Gene Transfer
Inflammatory Bowel Diseases. 14:S5-S6
2008
Gene delivery to intestinal epithelial cells in vitro and in vivo with recombinant adeno-associated virus types 1, 2 and 5.
Digestive diseases and sciences. 53(5):1261-70 [PMID] 17934813.
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2008
Clinical Response To Recombinant Acid Alpha-Glucosidase Is Predicted By Cardiac Outcome Measures in Children With Pompe Disease
Circulation. 118
2008
Clinical Benefit of Treatment With Alglucosidase Alfa in Infants and Children With Advanced Pompe Disease
Clinical Therapeutics. 30
2008
Apparently nonspecific enzyme elevations after portal vein delivery of recombinant adeno-associated virus serotype 2 vector in hepatitis C virus-infected chimpanzees.
Human gene therapy. 19(7):681-9 [DOI] 10.1089/hum.2007.174. [PMID] 18588426.
2008
Alglucosidase Alpha in Infants and Children With Pompe’S Disease
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Alglucosidase Alfa in Infants and Children With Pompe Disease
Neuromuscular Disorders. 18(9-10) [DOI] 10.1016/j.nmd.2008.06.261.
2008
Alglucosidase Alfa (Myozyme (R)) in Infants and Children With Rapidly Progressive Pompe Disease
Clinical Therapeutics. 30:S9-S10 [DOI] 10.1016/S0149-2918(08)80023-9.
2008
Alglucosidase Alea in Infants and Children With Pompe Disease
Journal of Inherited Metabolic Disease. 31
2008
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Proceedings of the National Academy of Sciences of the United States of America. 105(39):15112-7 [DOI] 10.1073/pnas.0807027105. [PMID] 18809924.
2008
AAV-mediated knockdown of phospholamban leads to improved contractility and calcium handling in cardiomyocytes.
The journal of gene medicine. 10(2):132-42 [PMID] 18064719.
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2007
Long-term skeletal muscle protection after gene transfer in a mouse model of LGMD-2D.
Molecular therapy : the journal of the American Society of Gene Therapy. 15(10):1775-81 [PMID] 17653106.
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2007
Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors.
Molecular therapy : the journal of the American Society of Gene Therapy. 15(3):501-7 [PMID] 17245350.
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2007
Preclinical characterization of a recombinant adeno-associated virus type 1-pseudotyped vector demonstrates dose-dependent injection site inflammation and dissemination of vector genomes to distant sites.
Human gene therapy. 18(3):245-56 [PMID] 17376008.
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2007
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Neurology. 68(2):99-109 [PMID] 17151339.
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2007
Structure of adeno-associated virus serotype 8, a gene therapy vector.
Journal of virology. 81(22):12260-71 [PMID] 17728238.
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Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo.
Circulation research. 99(4):e3-9 [PMID] 16873720.
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Pompe disease diagnosis and management guideline.
Genetics in medicine : official journal of the American College of Medical Genetics. 8(5):267-88 [PMID] 16702877.
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Phase I trial of intramuscular injection of a recombinant adeno-associated virus serotype 2 alphal-antitrypsin (AAT) vector in AAT-deficient adults.
Human gene therapy. 17(12):1177-86 [PMID] 17115945.
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2006
Cardiac and clinical phenotype in Barth syndrome.
Pediatrics. 118(2):e337-46 [PMID] 16847078.
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Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics. 8(5):289-96 [PMID] 16702878.
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Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer.
Gene therapy. 13(4):321-9 [PMID] 16195703.
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Biosynthesis of amphotericin derivatives lacking exocyclic carboxyl groups.
The Journal of biological chemistry. 280(41):34420-6 [PMID] 16079135.
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Expression of erythropoietin in cats treated with a recombinant adeno-associated viral vector.
American journal of veterinary research. 66(3):450-6 [PMID] 15822590.
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Herpesvirus-based infectious titering of recombinant adeno-associated viral vectors.
Molecular therapy : the journal of the American Society of Gene Therapy. 11(2):320-6 [PMID] 15668144.
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Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II.
Human gene therapy. 16(1):68-80 [PMID] 15703490.
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2005
Production, purification, crystallization and preliminary X-ray analysis of adeno-associated virus serotype 8.
Acta crystallographica. Section F, Structural biology and crystallization communications. 61(Pt 6):558-61 [PMID] 16511095.
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2005
Successful production of pseudotyped rAAV vectors using a modified baculovirus expression system.
Molecular therapy : the journal of the American Society of Gene Therapy. 12(6):1217-25 [PMID] 16213797.
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Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors.
Gene therapy. 12(18):1405-9 [PMID] 15920463.
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Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.
Pediatric cardiology. 26(5):632-7 [PMID] 16235007.
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Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease.
Development (Cambridge, England). 131(12):3007-19 [PMID] 15169761.
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2004
Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults.
Human gene therapy. 15(1):93-128 [PMID] 14965381.
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2004
Noninvasive monitoring and tracking of muscle stem cell transplants.
Transplantation. 78(11):1626-33 [PMID] 15591951.
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A new method for recombinant adeno-associated virus vector delivery to murine diaphragm.
Molecular therapy : the journal of the American Society of Gene Therapy. 9(3):458-63 [PMID] 15006614.
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2004
Inverted terminal repeat sequences of adeno-associated virus enhance the antibody and CD8(+) responses to a HIV-1 p55Gag/LAMP DNA vaccine chimera.
Virology. 323(2):220-32 [PMID] 15193918.
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Analysis and manipulation of amphotericin biosynthetic genes by means of modified phage KC515 transduction techniques.
Gene. 343(1):107-15 [PMID] 15563836.
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Non-invasive analysis of myoblast transplants in rodent cardiac muscle.
The international journal of cardiovascular imaging. 20(6):593-8 [PMID] 15856647.
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HIV-1 p55Gag encoded in the lysosome-associated membrane protein-1 as a DNA plasmid vaccine chimera is highly expressed, traffics to the major histocompatibility class II compartment, and elicits enhanced immune responses.
The Journal of biological chemistry. 278(39):37926-36 [PMID] 12824194.
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2003
Dual vectors expressing murine factor VIII result in sustained correction of hemophilia A mice.
Human gene therapy. 14(2):143-52 [PMID] 12614565.
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Biosynthesis of deoxyamphotericins and deoxyamphoteronolides by engineered strains of Streptomyces nodosus.
Chemistry & biology. 10(12):1215-24 [PMID] 14700629.
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2003
Adeno-associated virus mediated gene delivery into coronary microvessels of chronically instrumented dogs.
Journal of applied physiology (Bethesda, Md. : 1985). 95(4):1688-94 [PMID] 12844500.
View on: PubMed
2003
Cell therapy in the heart: cell production, transplantation, and applications.
Methods in molecular biology (Clifton, N.J.). 219:73-81 [PMID] 12596999.
View on: PubMed
2002
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
Current molecular medicine. 2(2):145-66 [PMID] 11949932.
View on: PubMed
2002
Adult hematopoietic stem cells provide functional hemangioblast activity during retinal neovascularization.
Nature medicine. 8(6):607-12 [PMID] 12042812.
View on: PubMed
2002
Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.
Molecular therapy : the journal of the American Society of Gene Therapy. 5(5 Pt 1):571-8 [PMID] 11991748.
View on: PubMed
2002
Human mesenchymal stem cells differentiate to a cardiomyocyte phenotype in the adult murine heart.
Circulation. 105(1):93-8 [PMID] 11772882.
View on: PubMed
2002
Improved method of recombinant AAV2 delivery for systemic targeted gene therapy.
Molecular therapy : the journal of the American Society of Gene Therapy. 6(1):106-12 [PMID] 12095310.
View on: PubMed
2002
Oxygen saturation as a screening test for critical congenital heart disease: a preliminary study.
Pediatric cardiology. 23(4):403-9 [PMID] 12170356.
View on: PubMed
2002
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors.
Methods (San Diego, Calif.). 28(2):158-67 [PMID] 12413414.
View on: PubMed
2002
Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice.
Human molecular genetics. 11(18):2155-64 [PMID] 12189168.
View on: PubMed
2002
Transduction of human and mouse pancreatic islet cells using a bicistronic recombinant adeno-associated viral vector.
Molecular therapy : the journal of the American Society of Gene Therapy. 5(2):154-60 [PMID] 11829522.
View on: PubMed
2002
Uniform long-term gene expression using adeno-associated virus (AAV) by ex vivo recirculation in rat-cardiac isografts.
The Thoracic and cardiovascular surgeon. 50(6):347-50 [PMID] 12457311.
View on: PubMed
2002
Virus-based gene delivery systems.
Clinical pharmacokinetics. 41(12):901-11 [PMID] 12222993.
View on: PubMed
2001
Human melatonin regulation is not mediated by the three cone photopic visual system.
The Journal of clinical endocrinology and metabolism. 86(1):433-6 [PMID] 11232036.
View on: PubMed
2001
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Human gene therapy. 12(5):527-38 [PMID] 11268285.
View on: PubMed
2001
Forearm blood flow and local responses to peptide vasodilators: a novel pharmacodynamic measure in the phase I trial of antagonist G, a neuropeptide growth factor antagonist.
Clinical cancer research : an official journal of the American Association for Cancer Research. 7(10):3071-8 [PMID] 11595697.
View on: PubMed
2001
CMV-beta-actin promoter directs higher expression from an adeno-associated viral vector in the liver than the cytomegalovirus or elongation factor 1 alpha promoter and results in therapeutic levels of human factor X in mice.
Human gene therapy. 12(5):563-73 [PMID] 11268288.
View on: PubMed
2001
Action spectrum for melatonin regulation in humans: evidence for a novel circadian photoreceptor.
The Journal of neuroscience : the official journal of the Society for Neuroscience. 21(16):6405-12 [PMID] 11487664.
View on: PubMed
2001
Conditional tissue-specific expression of the acid alpha-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy.
Human molecular genetics. 10(19):2039-47 [PMID] 11590121.
View on: PubMed
2000
Development and clinical evaluation of a recombinant-antigen-based cytomegalovirus immunoglobulin M automated immunoassay using the Abbott AxSYM analyzer.
Journal of clinical microbiology. 38(4):1476-81 [PMID] 10747129.
View on: PubMed
2000
In vitro system to study realistic pulsatile flow and stretch signaling in cultured vascular cells.
American journal of physiology. Cell physiology. 279(3):C797-805 [PMID] 10942730.
View on: PubMed
2000
Purification, crystallization and preliminary crystallographic studies of an integral membrane protein, cytochrome bo3 ubiquinol oxidase from Escherichia coli.
Acta crystallographica. Section D, Biological crystallography. 56(Pt 8):1076-8 [PMID] 10944359.
View on: PubMed
2000
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
The EMBO journal. 19(17):4439-48 [PMID] 10970838.
View on: PubMed
2000
Ultrasonographic evidence of a mushroom-shaped choroidal metastasis.
American journal of ophthalmology. 130(5):681-2 [PMID] 11078856.
View on: PubMed
1999
Effective gene transfer in the rat myocardium via adenovirus vectors using a coronary recirculation model.
The Thoracic and cardiovascular surgeon. 47(5):311-6 [PMID] 10599959.
View on: PubMed
1999
High-titer recombinant adeno-associated virus production utilizing a recombinant herpes simplex virus type I vector expressing AAV-2 Rep and Cap.
Gene therapy. 6(6):986-93 [PMID] 10455400.
View on: PubMed
1999
Myoblast cell grafting into heart muscle: cellular biology and potential applications.
Annual review of physiology. 61:219-42 [PMID] 10099688.
View on: PubMed
1999
Recombinant adeno-associated virus purification using novel methods improves infectious titer and yield.
Gene therapy. 6(6):973-85 [PMID] 10455399.
View on: PubMed
1999
Sustained vessel dilation induced by increased pulsatile perfusion of porcine carotid arteries in vitro.
Acta physiologica Scandinavica. 166(1):15-21 [PMID] 10372974.
View on: PubMed
1998
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
The Journal of biological chemistry. 273(30):19086-92 [PMID] 9668092.
View on: PubMed
1998
In vivo murine left ventricular pressure-volume relations by miniaturized conductance micromanometry.
The American journal of physiology. 274(4):H1416-22 [DOI] 10.1152/ajpheart.1998.274.4.H1416. [PMID] 9575947.
1998
Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectors.
Proceedings of the National Academy of Sciences of the United States of America. 95(24):14384-8 [PMID] 9826709.
View on: PubMed
1998
Electroporation-mediated gene transfer in cardiac tissue.
FEBS letters. 435(1):1-5 [PMID] 9755847.
View on: PubMed
1998
Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle.
Gene therapy. 5(4):473-80 [PMID] 9614571.
View on: PubMed
1998
Expression of Legionella pneumophila virulence traits in response to growth conditions.
Infection and immunity. 66(7):3029-34 [PMID] 9632562.
View on: PubMed
1997
Human small intestinal epithelial cells secrete interleukin-7 and differentially express two different interleukin-7 mRNA Transcripts: implications for extrathymic T-cell differentiation.
Human immunology. 58(2):83-90 [PMID] 9475337.
View on: PubMed
1997
Recombinant adeno-associated virus type 2 replication and packaging is entirely supported by a herpes simplex virus type 1 amplicon expressing Rep and Cap.
Journal of virology. 71(11):8780-9 [PMID] 9343238.
View on: PubMed
1996
Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein.
Proceedings of the National Academy of Sciences of the United States of America. 93(24):14082-7 [PMID] 8943064.
View on: PubMed
1996
Pulse pressure-related changes in coronary flow in vivo are modulated by nitric oxide and adenosine.
Circulation research. 79(4):849-56 [PMID] 8831510.
View on: PubMed
1995
Abdominal pain as a presenting symptom of supraventricular tachycardia.
Clinical pediatrics. 34(7):380-1 [PMID] 7554688.
View on: PubMed
1995
Mutation spectrum of 2-chloroethyl methanesulfonate in Drosophila melanogaster premeiotic germ cells.
Mutation research. 331(2):213-24 [PMID] 7500980.
View on: PubMed
1993
Comparative cytologic yield and quality of three Pap smear instruments.
Family medicine. 25(6):403-7 [PMID] 8349063.
View on: PubMed
1992
Chicken vinculin and meta-vinculin are derived from a single gene by alternative splicing of a 207-base pair exon unique to meta-vinculin.
The Journal of biological chemistry. 267(18):12845-50 [PMID] 1618784.
View on: PubMed
1991
Effects of green or white light for treatment of seasonal depression.
Psychiatry research. 38(3):261-70 [PMID] 1754638.
View on: PubMed
1990
Sleep patterns and dexamethasone suppression in nondepressed bulimics.
Biological psychiatry. 27(4):454-6 [PMID] 2178694.
View on: PubMed
1988
Effects of routine pupillary dilation on functional daylight vision.
Archives of ophthalmology (Chicago, Ill. : 1960). 106(11):1567-9 [PMID] 3190542.
View on: PubMed
1984
Mapping of the late promoter of simian virus 40.
Proceedings of the National Academy of Sciences of the United States of America. 81(1):23-7 [PMID] 6320166.
View on: PubMed
1983
Definition of the simian virus 40 early promoter region and demonstration of a host range bias in the enhancement effect of the simian virus 40 72-base-pair repeat.
Proceedings of the National Academy of Sciences of the United States of America. 80(3):721-5 [PMID] 6298771.
View on: PubMed

Grants

Sep 2020 ACTIVE
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
Role: Project Manager
Funding: NATL INST OF HLTH NIAMS
Jun 2020 ACTIVE
Development of a novel gene therapy for lupus
Role:
Funding: SAREPTA THERAPEUTICS
Jun 2020 ACTIVE
Immune response to AAV Vector Capsid and Assessment of Eligibility for AAV-mediated Gene Therapy for Duchenne Muscular Dystrophy
Role:
Funding: DUCHENNE UK
May 2020 ACTIVE
Analysis of Cincinnati Zoo Feline Shedding
Role: Principal Investigator
Funding: MASS GENERAL BRIGHAM
May 2020 ACTIVE
Control of Breathing and Pompe Disease
Role: Principal Investigator
Funding: NATL INST OF HLTH NICHD
Dec 2019 ACTIVE
Non-GLP Expression Study in C57BL/6 Mice
Role: Principal Investigator
Funding: APPLIED GENETICS TECH CORP
Dec 2019 ACTIVE
Sarepta TO #1: Support of PGTC Cores
Role: Principal Investigator
Funding: SAREPTA THERAPEUTICS
Nov 2019 ACTIVE
GLP Tissue and Shedding Biodistribution Study in Nonhuman Primates
Role: Principal Investigator
Funding: APIC BIO
Aug 2019 ACTIVE
Development of a Novel AAV Vector Capsid Optimized for OA Gene Therapy
Role: Project Manager
Funding: US ARMY MED RES ACQUISITION
Jul 2019 ACTIVE
Sarepta Task Order #7 – Pompe Canine Colony Housing Program
Role: Principal Investigator
Funding: SAREPTA THERAPEUTICS
Mar 2019 – Dec 2019
GLP Tissue-only Biodistribution Study in Nonhuman Primates
Role: Principal Investigator
Funding: APIC BIO
Dec 2018 ACTIVE
MDA MOVR Data Hub Participation Agreement
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
Oct 2018 – Dec 2018
Analysis of Cincinnati Zoo Feline Shedding
Role: Principal Investigator
Funding: MASS GENERAL BRIGHAM
Jul 2018 – Dec 2018
Limelight TO #1 – Optimizing Hydrodynamic Transduction Injection Procedure
Role: Principal Investigator
Funding: LIMELIGHT BIO
Jun 2018 – Jun 2020
Solid TO #15 Evaluation of Immune Management in AAV-?Dys Gene Therapy
Role: Principal Investigator
Funding: SOLID BIOSCIENCES INC
Apr 2018 – Apr 2020
Antisense oligonucleotide therapy for a novel humanized GAA rat model of Pompe Disease
Role: Principal Investigator
Funding: SAREPTA THERAPEUTICS
Apr 2018 – Dec 2018
Lacerta Task Order #3 – NHP TAb Screening
Role: Project Manager
Funding: LACERTA THERAPEUTICS
Dec 2017 ACTIVE
Analysis of Human Samples for Biodistribution and Circulating Antibodies
Role: Principal Investigator
Funding: SOLID BIOSCIENCES INC
Nov 2017 – Jun 2018
Hex-003-004
Role: Principal Investigator
Funding: UNIV OF MASSACHUSETTS MEDICAL SCHOOL
Oct 2017 – Mar 2019
Toxicology Study of BS01 in Rd1 mice
Role: Principal Investigator
Funding: APPLIED GENETICS TECH CORP
Aug 2017 ACTIVE
Optimizing AAV Vectors for Central Nervous System transduction
Role: Project Manager
Funding: NATL INST OF HLTH NINDS
Jun 2017 ACTIVE
Cure FA Research Foundation
Role: Principal Investigator
Funding: UF FOU
May 2017 – Nov 2019
Process Development for AAV Manufacturing of AAV-CB-hFXN
Role: Principal Investigator
Funding: CURE FA FOUNDATION
Apr 2017 ACTIVE
Breathing Research and Therapeutics (BREATHE)
Role:
Funding: NATL INST OF HLTH NHLBI
Mar 2017 ACTIVE
Expanded access trial of systemic delivery of aspartoacylase (rAAV0-CB6-AspA) gene vector in a single patient with canavan disease
Role: Principal Investigator
Funding: THE LAWRENCE FAMILY
Jan 2017 – Sep 2020
MDA Care Center
Role: Principal Investigator
Funding: MUSCULAR DYSTROPHY ASSO
Nov 2016 ACTIVE
TO #1 – Access and Transfer of rAAV9-CMV-hAADC Production and Testing Methods
Role:
Funding: PTC THERAPEUTICS
Sep 2016 – Jan 2019
Diaphragm pacing and rehabilitation in Pompe disease
Role:
Funding: NATL INST OF HLTH NICHD
Aug 2016 – Dec 2019
Solid TO#12 – Study ID:UFGTC15-007/ UFGTC16-007/UFGTC16-008
Role: Principal Investigator
Funding: SOLID GT LLC
Aug 2016 – Dec 2019
Task Order #13 – Evaluation of SGT-01 in Neonatal NHP using Immune Modulation
Role: Principal Investigator
Funding: SOLID GT LLC
Jul 2016 ACTIVE
CMS Newborn Screening – COQWX
Role:
Funding: FL DEPT OF HLTH CHILDRENS MED SERVS
Jul 2016 – Jun 2017
Solid Fellow
Role: Principal Investigator
Funding: SOLID GT LLC
Mar 2016 – Mar 2019
POM002 LAB SCERVICES AGREEMENT – GAA ACTIVITY ASSAY AND
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Mar 2016 – Jul 2017
Production and Testing of rAAV9-DES-hGAA Clinical Produc
Role: Principal Investigator
Funding: AUDENTES THERAPEUTICS
Jan 2016 – Dec 2016
Preclinical Study of Adeno-Associated Virus Mediated Gen
Role: Principal Investigator
Funding: AUDENTES THERAPEUTICS
Oct 2015 – Mar 2019
OneFlorida Clinical Research Consortium Phase II
Role: Project Manager
Funding: PATIENT-CENTERED OUTCOMES RES INST
Sep 2015 ACTIVE
Phase II Study of AAV9-GAA Gene Transfer in Pompe Disease
Role: Principal Investigator
Funding: NATL INST OF HLTH NHLBI
Sep 2015 – Mar 2017
Development therapeutic gene therapy vector for N-glycan
Role: Principal Investigator
Funding: GRACE WILSEY FOUNDATION
Sep 2015 – Aug 2018
SOLID TO #5 ASSESSMENT OF SAFETY/EFFICACY OF IV
Role: Principal Investigator
Funding: SOLID GT LLC
Aug 2015 – Aug 2021
An Open-Label, Multi-Center Study to Evaluate the Safety, Efficacy and Tolerability of Eteplirsen in Early-Stage Duchenne Muscular Dystrophy
Role: Principal Investigator
Funding: INVENTIV HEALTH CLINICAL LLC via SAREPTA THERAPEUTICS
Jul 2015 – Jul 2018
Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease
Role: Project Manager
Funding: BIOMARIN PHARMACEUTICAL
Jul 2015 – Jun 2019
Respiratory Muscle Function in Untreated X-linked Myotubular Myopathy
Role: Project Manager
Funding: AUDENTES THERAPEUTICS
May 2015 – May 2016
Request for Support to Plan Clinical Gene Therapy Progra
Role: Principal Investigator
Funding: BARTH SYNDROME FOU
Apr 2015 – Apr 2018
A Study of Respiratory Muscle Strength, including Effort-Independent Measures, in Subjects with Late-Onset Pompe Disease
Role: Project Manager
Funding: COVANCE INC via BIOMARIN PHARMACEUTICAL
Apr 2015 – Dec 2016
Project Development Planning
Role: Principal Investigator
Funding: SOLID GT LLC
Feb 2015 – Feb 2016
Pompe Gene Therapy
Role: Principal Investigator
Funding: AUDENTES THERAPEUTICS
Dec 2014 – Dec 2016
AAV9 Pompe Rodent Study
Role: Principal Investigator
Funding: AUDENTES THERAPEUTICS
Dec 2014 – Dec 2017
Recensus
Role: Principal Investigator
Funding: AUDENTES THERAPEUTICS
Dec 2014 ACTIVE
A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Friedreichs Ataxia
Role: Project Manager
Funding: TRIAL RUNNERS LLC via REATA PHARMACEUTICALS
Oct 2014 – Jun 2023
An Open-Label, Multi-Center, 48-Week Study with a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy
Role: Principal Investigator
Funding: SAREPTA THERAPEUTICS
Sep 2014 – Jun 2017
A Pilot Study of the Effects of Oral Administration of Zavesca on Anti-rhGAA Immune Response in Subjects with Pompe Disease Receiving rhGAA Enzyme Replacement Therapy
Role: Principal Investigator
Funding: AMICUS THERAPEUTICS
May 2014 – May 2022
An open-label, multicenter, multinational, extension study of the long-term safety and pharmacokinetics of repeated biweekly infusions of neoGAA in patients with Pompe disease
Role: Principal Investigator
Funding: SANOFI US SERVICES
Mar 2014 – Feb 2017
Response to Diaphragmatic Pacing in Subjects with Pompe
Role: Project Manager
Funding: ACID MALTASE DEFICIENCY ASSO
Jan 2014 – Dec 2018
BSF Human Material Storage
Role: Principal Investigator
Funding: BARTH SYNDROME FOU
Nov 2013 – Nov 2016
A Phase 3 Switchover Study of the Efficacy and Safety of BMN 701 (GILT-tagged Recombinant Human GAA) in rhGAA Exposed Subjects with Late-onset Pompe Disease
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Aug 2013 – Aug 2016
Tadalafil
Role: Principal Investigator
Funding: ELI LILLY AND CO
Aug 2013 – Feb 2018
Advanced Gene Therapy for Treatment of Cardiomyopathy and Respiratory Insufficiency in Duchenne Muscular Dystrophy
Role: Principal Investigator
Funding: US ARMY MED RES ACQUISITION
Aug 2013 – Mar 2016
Phase I/II Trial of Diaphragm Delivery of Recombinant Ad
Role: Principal Investigator
Funding: SOCIAL AND SCIENTIFIC SYSTEMS via NATL INST OF HLTH
Feb 2013 – Jun 2016
Development of Clinical Translational Studies
Role: Principal Investigator
Funding: AUDENTES THERAPEUTICS
Sep 2012 – Jun 2018
Control of Breathing and Pompe Disease
Role: Principal Investigator
Funding: NATL INST OF HLTH NICHD
Sep 2012 – Aug 2018
Becker Muscular Dystrophy – A Natural History Study to Predict Efficacy of Exon Skipping
Role: Principal Investigator
Funding: CHILDRENS RESEARCH INSTITUTE via NATL INST OF HLTH
Jul 2012 ACTIVE
Earl and Christy Powell University Chair in Gene Therapy and Genetics Research – F017885/6
Role: Principal Investigator
Funding: UF FOU
Jul 2012 ACTIVE
Fox Research Fund
Role: Principal Investigator
Funding: UF FOU
Jul 2012 ACTIVE
Powell Gene Therapy Fund
Role: Principal Investigator
Funding: UF FOU
Jul 2012 ACTIVE
Sunshine Children's Fund
Role: Principal Investigator
Funding: UF FOU
Jun 2012 – May 2017
Heart and Skeletal Muscle Metabolism, Energetics and Function in Barth Syndrome
Role: Principal Investigator
Funding: WASHINGTON UNIV via NATL INST OF HLTH
May 2012 – May 2018
Open-Label, Multiple-Dose, Efficacy, Safety, and Tolerability Study of Eteplirsen in Subjects with Duchenne Muscular Dystrophy who Participated in Study 4658-US-201
Role: Principal Investigator
Funding: SAREPTA THERAPEUTICS
Mar 2012 – Aug 2020
UFRCC for Cardiovascular Cell Therapy Research Network
Role:
Funding: NATL INST OF HLTH NHLBI
Feb 2012 – Feb 2018
A Phase 4, Open-Label, Prospective Study in Patients wit
Role: Principal Investigator
Funding: GENZYME CORP
Dec 2011 – Dec 2019
Neuromuscular Disease/Clinical Trial Support Fund
Role: Principal Investigator
Funding: UF FOU
Aug 2011 – Apr 2017
A Long Term Study for Extended BMN 701 Treatement of Pat
Role: Principal Investigator
Funding: BIOMARIN PHARMACEUTICAL
Apr 2011 – Apr 2022
A Long-term Study to Evaluate Growth and Development Outcomes in Patients with Infantile-Onset Pompe Disease Who Are Receiving Myzoyme (alglucosidase alfa)
Role: Principal Investigator
Funding: GENZYME CORP
Nov 2010 – Oct 2018
McGollie – Longitudinal, Observations Study of Subjects
Role: Principal Investigator
Funding: UF FOU
Dec 2009 – May 2021
Data Registry Services
Role: Principal Investigator
Funding: GENZYME CORP
Jul 2007 – Aug 2016
Clinical and Translational Science Institute
Role: Project Manager
Funding: UF RESEARCH FOU

Patents

Issued November 2000
Method of Preparing Recombinant AAV Compositions
#6,146,874
Issued October 2002
Materials and Methods for Gene Therapy
#6,461,606
Published October 2002
rAAV Compositions for Gene Therapy
#US-2003-0082162-A1
Published January 2003
Adeno-Associated Viral Vectors for the Treatment and Prevention of Diabetes
#US-2003-0095949-A1
Published April 2003
Treatment for Pompe Disease
#US-2003-0223966-A1
Published June 2003
Production of Pseudotyped Recombinant AAV Virions
#2007-0015238-A1
Issued December 2003
Method of Preparing Recombinant Adeno-Associated Virus Compositions
#6,660,514
Published December 2003
Methods of Preparing Recombinant Adeno-Associated Virus Compositions
#2004/0121444-A1
Issued August 2004
Methods for Large-Scale Production of Recombinant AAV Vectors
#6,783,972
Published February 2005
Gel-based Delivery of Recombinant Adeno-Associated Virus Vectors
#US2006/0078542 A1
Published August 2006
High Titer Recombinant AAV Production
#US-2007-0202587
Issued August 2006
High Titer Recombinant AAV Production
#7,091,029
Issued August 2006
Production of Pseudotyped Recombinant AAV Virions
#7,094,604
Published October 2007
Adeno-Associated Viral Vectors for the Treatment and Prevention of Diabetes (CON)
#US-2009-0186002-A1
Published April 2008
Gel-Based Delivery of Recombinant Adeno-Associated Virus Vectors
#US2008/0279945-A1
Published April 2010
Compositions and Methods for Treating Glycogen Storage Diseases
#US2010/0221225 A1
Published June 2012
Recombinant Adeno-Associated Virus Vector Therapy for Treatment of the Neuromuscular Junction
#US-2012-0322861-A1
Issued October 2012
A Self-Complementary Adeno-Associated Virus Having a Truncated CMV-Chicken B-Actin Promoter
#8,298,818
Published November 2012
High Titer Recombinant AAV Production
#US-2013-0171719
Published December 2014
Recombinant Adeno-Associated Virus Vector Therapy for Treatment of the Neuromuscular Junction (CIP)
#US-2015-0196671-A1
Published April 2015
Methods of Permitting a Subject to Receive Multiple Doses of Recombinant Adeno-Associated Vrus
#US2017/0049887
Published July 2015
Novel Method for Purification of Raav9 by Ion Exchange Chromatography and Sodium Citrate and Citric Acid Buffers
#US2017/0130208
Published October 2015
High Titer Recombinant AAV Production
#US 2016-0024480 A1
Published January 2016
Compositions and Methods for Treating Diseases (CON)
#US2018/005120-A9
Published April 2016
Recombinant Adeno-Associated Virus Vector Therapy for Treatment of the Neuromuscular Junction (CON)
#US2017/0028002
Published December 2016
Methods of Packaging Multiple Aden-Associated Virus Vectors
#US2017/0218395
Published February 2017
Recombinant AAV Production in Mammalian Cells
#US17/0362577
Issued May 2017
Adeno-Associated Virus Vectors for Treatment of Glycogen Storage Disease
#9,644,216

Education

Postdoctoral Fellowship – Biological Chemistry
1987-1991 · Johns Hopkins University
Clinical Fellowship – Pediatric Cardiology
1987-1991 · Johns Hopkins University
Residency – Pediatrics
1984-1987 · The Johns Hopkins Hospital
Medical Degree
1978-1984 · University of Illinois
Doctor of Philosophy – Microbiology & Immunology
1978-1984 · University of Illinois

Teaching Profile

Courses Taught
2018
MDT7090 Elective Topics
2018
GMS7980 Research for Doctoral Dissertation
2013-2014,2016-2017
GMS6001 Fundamentals of Biomedical Sciences I

Contact Details

Phones:
Business:
(352) 294-5757
Emails:
ADMINISTRATIVE SPECIALIST III:
Larry A Compton
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