Overview

This trial is active, not recruiting.

Conditions pompe disease, glycogen storage disease type ii (gsd-ii), acid maltase deficiency disease
Treatment alglucosidase alfa
Phase phase 4
Sponsor Genzyme, a Sanofi Company
Start date August 2008
End date December 2025
Trial size 30 participants
Trial identifier NCT00486889, AGLU03606, LTS12869, U1111-1163-0368

Summary

Pompe disease (also known as glycogen storage disease Type II) 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 Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective of this study is to evaluate the long-term growth and development of patients with infantile-onset Pompe disease with alglucosidase alfa before 1 year of age. Patients will be followed for 10-year period.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Endpoint classification safety/efficacy study
Intervention model single group assignment
Masking open label
Primary purpose treatment
Arm
(Experimental)
alglucosidase alfa
Intravenous (IV) infusion: 20mg/kg every 2 weeks

Primary Outcomes

Measure
Long-term growth and development as measured by recumbent length/height, weight and head circumference
time frame: Every 3 Months for up to 10 years
Change from baseline in motor development and function, as measured by changes in the motor subscale of the Bayley Scales of Infant and Toddler Development (Bayley-III) (up to 42 months of age) at 10 years
time frame: Up to 10 years
Change from baseline in motor development and function, as measured by changes in the total score of the Gross Motor Function Measure (GMFM-88) at 10 years
time frame: Up to 10 years
Change from baseline in the raw scores, normative standard scores and scaled scores for the Functional Skills Mobility and Self-Care domains of the Pompe Pediatric Evaluation of Disability Inventory (Pompe PEDI) at 10 years
time frame: Up to 10 years
Change from baseline in Cognitive Development, as measured by changes in the raw scores, scaled scores and composite scores for the cognitive and language subscales of the Bayley Scales of Infant and Toddler Development (Bayley-III) at 10 years
time frame: Up to 10 years
Change from baseline in Cognitive Development, as measured by changes in raw and scaled subscale scores and composite scores and percentiles of Brief Scale IQ test of Leiter-R and/or Nonverbal IQ test of Leiter-3 (starting at 42 months of age)
time frame: Up to 10 years
Summary of Adverse Events
time frame: Up to 10 years

Eligibility Criteria

Male or female participants up to 24 months old.

Inclusion Criteria: - The patient or patient's legal guardian must provide signed, informed consent prior to performing any study-related procedures; - The patient must have a confirmed diagnosis of Pompe disease as determined by deficient endogenous acid alpha-glucosidase (GAA) activity or GAA mutation analysis; and - The patient must be <1 year of age at time of study enrollment (and receive alglucosidase alfa treatment before 1 year of age), or the patient must be between 1 year and 24 months of age and must have initiated alglucosidase alfa treatment prior to turning 1 year of age. Exclusion Criteria: - The patient is participating in another clinical study using alglucosidase alfa or any investigational therapy.

Additional Information

Official title A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa.
Trial information was received from ClinicalTrials.gov and was last updated in October 2015.
Information provided to ClinicalTrials.gov by Sanofi.