Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support

NCT00268944 | Completed Phase 3

• 1 other identifier: AGLU03105
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

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 is to evaluate the safety and efficacy of rhGAA in patients with advanced Late-onset Pompe disease.

Conditions

Pompe Disease (Late-onset); Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease; Glycogenosis 2

Keywords

Glycogen Storage Disease Type II; GSD-II; Pompe Disease

Outcome Measures

Primary Outcomes (8)

• Treatment effect on muscle strength and functional status.

  six months and one year

• Treatment effect on pulmonary function and/or ventilation conditions.

  six months and one year

• Treatment effect on cardiomyopathy noted at inclusion

  six months and one year

• Treatment effect on fatigue.

  six months and one year

• Treatment effect on quality of life.

  six months and one year

• Treatment effect on muscular atrophy.

  six months and one year

• Overall patient satisfaction with treatment (visual analog scale).

  six months and one year

• Pharmacodynamics assessment.

  six months and one year

Study Arms (1)

1

EXPERIMENTAL

Biological: Myozyme

Interventions

Myozyme BIOLOGICAL

20 mg/kg qow

Also known as: alglucosidase alfa

1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• male or female aged greater than or equal to 18 years
• patient's legally authorized guardian(s) must provide signed, informed consent prior to initiation of study; patient's signature required if patient understands informed consent
• patient must have a documented deficit in acid alpha-glucosidase (GAA) activity , corresponding to the diagnosis of Pompe disease confirmed by documented genotyping
• patient presents with advanced documented symptoms of the disease defined as follows: patient is in a wheel chair and presents diaphragmatic dysfunction and requires invasive ventilation or non invasive ventilation (12 or more hours daily)

You may not qualify if:

• patient has received enzyme replacement therapy with GAA from any source
• major congenital anomaly
• clinically important organic disease (except for symptoms related to Pompe disease) or any other medical condition, serious intercurrent illness, or other extenuating circumstance that, in the physician's opinion should preclude the patient's participation in the study or may reduce survival
• pregnancy and breastfeeding (women of childbearing age must use a medically accepted method of contraception throughout the entire duration of the trial. Male patients must use a medically accepted birth control method throughout the entire duration of the study)

Sponsors & Collaborators

• Genzyme, a Sanofi Company: lead

Study Sites (1)

Hopital Raymond Poincare

Garches, 92380, France

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

GAA protein, human

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Monitor

  Genzyme, a Sanofi Company

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: December 22, 2005
• First Posted: December 23, 2005
• Study Start: December 1, 2005
• Primary Completion: March 1, 2007
• Study Completion: June 1, 2007
• Last Updated: February 5, 2014

Record last verified: 2014-02

Locations

FR (1)