Growth and Development Study of Alglucosidase Alfa.

• ClinicalTrials.gov Identifier: NCT00486889
• Recruitment Status: Active, not recruiting
• First Posted: June 15, 2007
• Last Update Posted: February 19, 2020
• Sponsor: Genzyme, a Sanofi Company
• Information provided by (Responsible Party): Sanofi ( Genzyme, a Sanofi Company )

Study Description

Brief 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.

Condition or disease	Intervention/treatment	Phase
Pompe Disease; Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease	Biological: alglucosidase alfa	Phase 4

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 30 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Treatment
• Official Title: A Long-term Study to Evaluate Growth and Development Outcomes in Patients With Infantile-Onset Pompe Disease Who Are Receiving Alglucosidase Alfa.
• Actual Study Start Date: August 26, 2008
• Estimated Primary Completion Date: April 2023
• Estimated Study Completion Date: April 2023

Arms and Interventions

Arm	Intervention/treatment
Experimental: alglucosidase alfa	Biological: alglucosidase alfa; Intravenous (IV) infusion: 20mg/kg every 2 weeks

Outcome Measures

Primary Outcome Measures :

1. 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 ]
2. 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 ]
3. 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 ]
4. 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 ]
5. 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 ]
6. 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 ]
7. Summary of Adverse Events [ Time Frame: Up to 10 years ]

Eligibility Criteria

• Ages Eligible for Study: up to 24 Months (Child)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

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.

Contacts and Locations

Locations

United States, Florida

Gainesville, Florida, United States

United States, Georgia

Decatur, Georgia, United States

United States, Michigan

Detroit, Michigan, United States

Sponsors and Collaborators

Genzyme, a Sanofi Company

Investigators

• Study Director: Medical Monitor; Genzyme, a Sanofi Company

More Information

• Responsible Party: Genzyme, a Sanofi Company
• ClinicalTrials.gov Identifier: NCT00486889
• Other Study ID Numbers: AGLU03606; LTS12869 ( Other Identifier: Sanofi ); U1111-1163-0368 ( Other Identifier: UTN )
• First Posted: June 15, 2007
• Last Update Posted: February 19, 2020
• Last Verified: February 2020

Keywords provided by Sanofi ( Genzyme, a Sanofi Company ):

Glycogenesis 2

Additional relevant MeSH terms:

Glycogen Storage Disease Type II; Glycogen Storage Disease; Deficiency Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Malnutrition; Nutrition Disorders