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

Pompe Disease (Late-onset) Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00268944
• Other study ID #: AGLU03105
• Status: Completed
• Phase: Phase 3
• First received: December 22, 2005
• Last updated: February 4, 2014
• Start date: December 2005
• Est. completion date: June 2007

Study information

• Verified date: February 2014
• Source: Sanofi
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5
• Est. completion date: June 2007
• Est. primary completion date: March 2007
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years and older

Eligibility

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 Design

Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

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

Intervention

Biological:
• Myozyme
20 mg/kg qow

Locations

Country	Name	City	State
France	Hopital Raymond Poincare	Garches

Sponsors (1)

Lead Sponsor	Collaborator
Genzyme, a Sanofi Company

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Treatment effect on muscle strength and functional status.		six months and one year	No
Primary	Treatment effect on pulmonary function and/or ventilation conditions.		six months and one year	No
Primary	Treatment effect on cardiomyopathy noted at inclusion		six months and one year	No
Primary	Treatment effect on fatigue.		six months and one year	No
Primary	Treatment effect on quality of life.		six months and one year	No
Primary	Treatment effect on muscular atrophy.		six months and one year	No
Primary	Overall patient satisfaction with treatment (visual analog scale).		six months and one year	No
Primary	Pharmacodynamics assessment.		six months and one year	No