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

Genzyme

Status and phase

Completed

Phase 3

Conditions

Pompe Disease (Late-onset)

Glycogenosis 2

Acid Maltase Deficiency Disease

Glycogen Storage Disease Type II (GSD-II)

Treatments

Biological: Myozyme

Study type

Interventional

Funder types

Industry

Identifiers

NCT00268944

AGLU03105

Details and patient eligibility

About

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.

Enrollment

5 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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)