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

Prospective, Open-label, Single-arm, Exploratory Study of the Effect and Safety of rhGAA in Patients With Advanced Late-onset Pompe Disease Who Are Receiving Respiratory Support

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.

Study Overview

• Status: Completed
• Conditions: Pompe Disease (Late-onset); Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease; Glycogenosis 2
• Intervention / Treatment: Biological: Myozyme

• Study Type: Interventional
• Enrollment (Actual): 5
• Phase: Phase 3

Contacts and Locations

Study Locations

• France
  • Garches, France, 92380
    • Hôpital Raymond Poincaré

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• 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)

Exclusion Criteria:

• patient has received enzyme replacement therapy with GAA from any source
• patient has taken an experimental drug in the 30 days prior to study enrollment, or is currently included in another study involving clinical evaluations; If this is the case, inclusion of the patient in the present study will be subject to prior agreement by Genzyme
• 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)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: TREATMENT
• Allocation: NON_RANDOMIZED
• Interventional Model: SINGLE_GROUP
• Masking: NONE

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
EXPERIMENTAL: 1	Biological: Myozyme; 20 mg/kg qow; Other Names: alglucosidase alfa

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company

Study record dates

Study Major Dates

• Study Start: December 1, 2005
• Primary Completion (ACTUAL): March 1, 2007
• Study Completion (ACTUAL): June 1, 2007

Study Registration Dates

• First Submitted: December 22, 2005
• First Submitted That Met QC Criteria: December 22, 2005
• First Posted (ESTIMATE): December 23, 2005

Study Record Updates

• Last Update Posted (ESTIMATE): February 5, 2014
• Last Update Submitted That Met QC Criteria: February 4, 2014
• Last Verified: February 1, 2014

More Information

Terms related to this study

• Keywords: Glycogen Storage Disease Type II; GSD-II; Pompe Disease
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Nutrition Disorders; Genetic Diseases, Inborn; Malnutrition; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Lysosomal Storage Diseases, Nervous System; Disease; Deficiency Diseases; Glycogen Storage Disease Type II; Glycogen Storage Disease
• Other Study ID Numbers: AGLU03105