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Growth and Development Study of Alglucosidase Alfa.

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Sanofi ( Genzyme, a Sanofi Company ) Identifier:
First received: June 13, 2007
Last updated: January 18, 2017
Last verified: January 2017
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 Intervention Phase
Pompe Disease
Glycogen Storage Disease Type II (GSD-II)
Acid Maltase Deficiency Disease
Biological: alglucosidase alfa
Phase 4

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: No masking
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.

Resource links provided by NLM:

Further study details as provided by Sanofi:

Primary Outcome Measures:
  • 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 ]

Estimated Enrollment: 30
Study Start Date: August 2008
Estimated Study Completion Date: January 2026
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: alglucosidase alfa Biological: alglucosidase alfa
Intravenous (IV) infusion: 20mg/kg every 2 weeks


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

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
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Please refer to this study by its identifier: NCT00486889

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
Study Director: Medical Monitor Genzyme, a Sanofi Company
  More Information

Responsible Party: Genzyme, a Sanofi Company Identifier: NCT00486889     History of Changes
Other Study ID Numbers: AGLU03606
LTS12869 ( Other Identifier: Sanofi )
U1111-1163-0368 ( Other Identifier: UTN )
Study First Received: June 13, 2007
Last Updated: January 18, 2017

Keywords provided by Sanofi:
Glycogenesis 2

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Glycogen Storage Disease
Deficiency Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Nutrition Disorders
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lysosomal Storage Diseases processed this record on May 23, 2017