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

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.

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Key information

Conditions

Glycogen Storage Disease Type II Acid Maltase Deficiency Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogenosis 2 Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Pompe Disease

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Saint Peter's University Hospital

New Brunswick, New Jersey, 08903-0591, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Written informed consent must be obtained from the parent or guardian prior to performing any study related procedures;
Patient must have a clinical diagnosis of GSD-II confirmed by endogenous GAA activity below normal in at least one tissue;
Patient must have a sibling with a clinical diagnosis of GSD-II confirmed by an endogenous GAA activity below normal in at least one tissue, who is eligible for participation in this study;
Patient must have a sibling with identical GAA mutations who is eligible for participation in this study;
Patient must have a sibling with evidence of different progression of GSD-II who is eligible for participation in this study;
The patient or his/her guardian(s) must have the ability to comply with the clinical protocol.

Exclusion criteria

Patient has significant organic disease (with the exception of symptoms relating to GSD-II), including clinically significant cardiovascular, hepatic, pulmonary, neurologic, or renal disease, or other medical condition, serious intercurrent illness, or extenuating circumstance that, would preclude participation in the trial;
Patient is participating in another investigational study.

Treatment and study plan

Alglucosidase Alfa

Drug

20 mg/kg (qow); intravenous

Primary outcomes

Evaluate safety, pharmacokinetics and pharmacodynamics

Time frame: 52 weeks
Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations

Time frame: 52 weeks
Evaluate differences in skeletal muscle expression prior to and after ERT

Time frame: 52 weeks

Sponsors and collaborators

Lead sponsor

Genzyme, a Sanofi Company

Industry

Registry information

Official study 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).

Important dates

Study start: 2003
Primary completion: 2003
Study completion: 2003
First posted: Jan 22, 2003
Registry last updated: Feb 5, 2014

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed