Clinical trial NCT00053573: rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)
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
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
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: 2003-02-03
Enrollment: 20
Sex: ALL
Minimum age (years): 6
Maximum age (years): 36
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: 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.


Eligibility 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

Primary outcomes:
measure: Evaluate the safety of Myozyme
timeFrame: 52 weeks
measure: Determine proportion of patients alive over the course of treatment
timeFrame: 52 weeks
measure: PK profile of MZ
timeFrame: 52 weeks
measure: PD profile of MZ
timeFrame: 52 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida College of Medicine
state: Florida
city: Durham
country: United States
facility: Duke University Medical Center
state: North Carolina
city: Cincinnati
country: United States
facility: Children's Hospital Medical Center
state: Ohio
city: Lyon
country: France
facility: Pediatrique Hopital de Brousse
city: Haifa
country: Israel
facility: Rambam Medical Center
city: Manchester
country: United Kingdom
facility: Royal Manchester Children's Hospital
Study officials:
affiliation: Genzyme, a Sanofi Company
name: Medical Monitor
role: STUDY_DIRECTOR
References:
citation: Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.