AGLU01702: rhGAA in Patients with Infantile-Onset Glycogen Storage Disease-II (Pompe Disease)

This study has been completed.

Sponsored By:	Genzyme
Information Provided By:	Genzyme
ClinicalTrials.gov Identifier:	NCT00053573

Purpose

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 and effectiveness of recombinant human acid alpha-glucosidase (rhGAA) as a potential enzyme replacement therapy for GSD-II. Patients diagnosed with infantile-onset GSD-II who are greater than 6 months old, but less than or equal to 36 months old will be studied.

Condition	Intervention	Phase
Glycogen Storage Disease Type II Pompe Disease Acid Maltase Deficiency Disease Glycogenosis 2	Drug: recombinant human acid alpha-glucosidase (rhGAA)	Phase I, Phase II

Study Type: Interventional

Study Design: Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study

Official Title: An Open-Label, Multicenter, Multinational, Study of the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of rhGAA Treatment in Patients Greater Than 6 Months and Less Than or Equal to 36 Months Old with Infantile-Onset GSD-II

Eligibility

Ages Eligible for Study: 6 Months - 36 Months, Genders Eligible for Study: Both

Criteria

Inclusion Criteria:

The patient or the patient’s legal guardian(s) must provide written informed consent prior to any study-related procedures being performed

The patient must have a clinical diagnosis of infantile GSD-II as defined by: (a) the patient has/had documented (in a medical record) onset of symptoms compatible with GSD-II by 12 months of age; (b) the patient has documented GAA deficiency as illustrated by an endogenous GAA activity less than or equal to 2% of the mean of the normal range as assessed in cultured skin fibroblasts; AND (c) the patient has a Left Ventricular Mass Index greater than 2 standard deviations above the mean for age

The patient is greater than 6 months old and less than or equal to 36 months old at the time of the first dose of rhGAA

The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol

Exclusion Criteria:

Signs and symptoms of cardiac failure and an ejection fraction less than 40%

Major congenital abnormality

Clinically 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, in the opinion of the Investigator, would preclude participation in the trial or potentially decrease survival

Use of any investigational product within 30 days prior to study enrollment

Received enzyme replacement therapy with GAA from any source

Location Information

Florida
University of Florida College of Medicine, Gainesville, Florida, 32610, United States

North Carolina
Duke University Medical Center, Durham, North Carolina, 27710, United States

Ohio
Children's Hospital Medical Center, Cincinnati, Ohio, 45229, United States

France
Pediatrique Hopital de Brousse, Lyon, France

Israel
Rambam Medical Center, Haifa, 31096, Israel

United Kingdom
Royal Manchester Children's Hospital, Manchester, M27 4 HA, United Kingdom

More Information

Myozyme® FDA-approved labeling information

Study ID Numbers: AGLU01702
ClinicalTrials.gov Identifier: NCT00053573
Health Authority: United States: Food and Drug Administration