Clinical trial NCT00051935: A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
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).
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE2
Conditions: Glycogen Storage Disease Type II
Pompe Disease
Acid Maltase Deficiency Disease
Glycogenosis 2
Keywords: Glycogen Storage Disease Type II
GSD-II
Pompe Disease
Lead sponsor: Sanofi
Sponsor class: INDUSTRY
First posted: 2003-01-22
Enrollment: 2
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief 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.


Eligibility criteria: 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.

Primary outcomes:
measure: Evaluate safety, pharmacokinetics and pharmacodynamics
timeFrame: 52 weeks
measure: Evaluate differences in skeletal muscle gene expression in sibling pair with identical GAA mutations
timeFrame: 52 weeks
measure: Evaluate differences in skeletal muscle expression prior to and after ERT
timeFrame: 52 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: New Brunswick
country: United States
facility: Saint Peter's University Hospital
state: New Jersey
Study officials:
affiliation: Genzyme, a Sanofi Company
name: Medical Monitor
role: STUDY_DIRECTOR
References: