Growth and Development Study of Alglucosidase Alfa.
Information source: Sanofi
ClinicalTrials.gov processed this data on August 23, 2015
Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Pompe Disease; Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease
Intervention: alglucosidase alfa (Biological)
Phase: Phase 4
Status: Active, not recruiting
Sponsored by: Genzyme, a Sanofi Company
Official(s) and/or principal investigator(s):
Medical Monitor, Study Director, Affiliation: Genzyme, a Sanofi Company
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.
Official title: A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa.
Study design: Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
Long-term growth and development as measured by recumbent length/height, weight and head circumference
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
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
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
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
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)
Summary of Adverse Events
Minimum age: N/A.
Maximum age: 24 Months.
- 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;
- 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.
- The patient is participating in another clinical study using alglucosidase alfa or
any investigational therapy.
Locations and Contacts
Gainesville, Florida, United States
Decatur, Georgia, United States
Detroit, Michigan, United States
Starting date: August 2008
Last updated: April 21, 2015