Clinical Trials Logo
  1. Home
  2. Glycogen Storage Disease Type II
  3. NCT00051935

A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II

Pompe Disease Clinical Trial

Official title:
Open-Label, Pilot Study of the Safety, Pharmacokinetics and Pharmacodynamics of Recombinant Human Acid Alpha-Glucosidase (rhGAA) as Enzyme Replacement Therapy in Siblings With Glycogen Storage Disease Type II (GSD-II).

Clinical Trial Summary

GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with GSD-II, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. This study is being conducted to evaluate the safety, pharmacokinetics, pharmacodynamics and efficacy of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for a pair of siblings with GSD-II. To be eligible for this study, a patient must have a confirmed diagnosis of GSD-II and have a sister or brother who also has a confirmed diagnosis of GSD-II.

Clinical Trial Description

n/a

Study Design

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00051935
Study type Interventional
Source Sanofi
Contact
Status Completed
Phase Phase 2
Start date January 2003
Completion date October 2003
View Details
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
Completed NCT00976352 - Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Phase 1/Phase 2
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