Growth and Development Study of Alglucosidase Alfa

Genzyme

Status and phase: Completed; Phase 4

Conditions: Pompe Disease; Acid Maltase Deficiency Disease; Glycogen Storage Disease Type II (GSD-II)

Treatments: Biological: alglucosidase alfa

Study type: Interventional

Funder types: Industry

Identifiers

NCT00486889

LTS12869 (Other Identifier)

2021-005552-11 (EudraCT Number)

AGLU03606

U1111-1163-0368 (Other Identifier)

Details and patient eligibility

About

Pompe disease (also known as glycogen storage disease Type II) is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid α glucosidase (GAA), an enzyme that degrades lysosomal glycogen. As opposed to the exclusively cytoplasmic accumulation of glycogen that occurs in other glycogen storage disorders, Pompe disease is characterized by organelle bound (lysosomal) and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. The overall objective of this study was to evaluate the long-term growth and development of participants with infantile-onset Pompe disease with alglucosidase alfa before 1 year of age. Participants were to be followed for a 10-year period.

Enrollment: 12 patients

Sex: All

Ages: Under 24 months old

Volunteers: No Healthy Volunteers

Inclusion criteria

• The participant or participant's legal guardian must have provided signed, informed consent prior to performing any study-related procedures.
• The participant must have had a confirmed diagnosis of Pompe disease as determined by deficient endogenous GAA activity or GAA mutation analysis.
• The participant must be less than (<) 1 year of age at time of study enrollment (and received alglucosidase alfa treatment before 1 year of age), or the participant must be between 1 year and 24 months of age and must have had initiated alglucosidase alfa treatment prior to turning 1 year of age.

Exclusion criteria

• The participant was participating in another clinical study using alglucosidase alfa or any investigational therapy.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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12 participants in 1 patient group

Alglucosidase Alfa

Experimental group

Description:

Participants received alglucosidase alfa 20 milligrams per kilogram (mg/kg) body weight as intravenous infusion every 2 weeks and were followed for 10 years or up to discontinuation from study treatment due to any reason.

Treatment:

Biological: alglucosidase alfa