Clinical Trials Logo

Clinical Trial Summary

Pompe disease is an inherited condition of acid alpha-glucosidase (GAA) deficiency resulting in lysosomal accumulation of glycogen in all tissues. Glycogen accumulation leads to muscle dysfunction and profound muscle weakness. A wide spectrum of disease is characteristic and the most severe patients have cardiorespiratory failure, often fatal in the first two years of life. Researchers have developed a way to introduce the normal GAA gene into muscle cells with the expectation that the GAA protein will be produced at levels sufficient to reduce glycogen accumulation. This study will evaluate the safety of the experimental gene transfer procedure in individuals with GAA deficiency. The study will also determine what dose may be required to achieve improvement in measures of respiratory function.


Clinical Trial Description

The goal of the current study is to evaluate an experimental gene transfer procedure in which normal copies of the GAA gene are inserted into cells. In this study, a modified virus, adeno-associated virus (AAV), has been engineered to carry a normal copy of the GAA gene, known as rAAV1-CMV-hGAA, which is used to place normal copies of the GAA gene into diaphragm muscle cells. The purpose of this study is to evaluate the safety of rAAV1-CMV-hGAA delivery into individuals with GAA deficiency (Pompe Disease).

Participants currently using enzyme replacement therapy will continue to receive their regular medical regimen during the 12 month duration of the study. Participants will first attend a screening study visit to confirm study eligibility. Participants will then attend a 3-5 day inpatient visit, during which they will receive a series of intradiaphragmatic injections consisting of the study agent (rAAV1-CMV-hGAA). Follow-up study visits will occur on Days 14, 90, 180, 270 and 365. Participants will have yearly follow-up evaluations by either telephone or mail for a total of 15 years, or as required by the FDA and other regulatory agencies. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00976352
Study type Interventional
Source University of Florida
Contact
Status Completed
Phase Phase 1/Phase 2
Start date September 2010
Completion date December 2015

See also
  Status Clinical Trial Phase
Completed NCT01942590 - Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Phase 1/Phase 2
Not yet recruiting NCT01409486 - Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry N/A
Recruiting NCT01665326 - Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
Completed NCT01758354 - Newborn Screening Assay of Pompe's Disease N/A
Recruiting NCT00231400 - Pompe Disease Registry Protocol
Recruiting NCT04476550 - Clinical Specimen Collection From Pompe Disease Patients
Recruiting NCT05687474 - Baby Detect : Genomic Newborn Screening
Completed NCT01380743 - Drug-drug Interaction Study Phase 2
Recruiting NCT05734521 - Avalglucosidase Alfa Pregnancy Study
Completed NCT02742298 - Pompe Disease QMUS and EIM N/A
Terminated NCT02185651 - A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Phase 1
Completed NCT02654886 - Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. N/A
Completed NCT02405598 - Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Phase 4
Completed NCT00701129 - An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Phase 4
Completed NCT01451879 - Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies N/A
Completed NCT02240407 - Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Phase 1
Completed NCT05073783 - A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting
Active, not recruiting NCT04093349 - A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) Phase 1/Phase 2
Completed NCT02363153 - Diet and Exercise in Pompe Disease N/A
Completed NCT01410890 - Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Phase 4