A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
Overview
- Phase
- Phase 2
- Intervention
- Not specified
- Conditions
- Fabry Disease
- Sponsor
- Genzyme, a Sanofi Company
- Enrollment
- 16
- Locations
- 7
- Primary Endpoint
- Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
- Status
- Completed
- Last Updated
- 11 years ago
Overview
Brief Summary
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids". These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.
Investigators
Eligibility Criteria
Inclusion Criteria
- Not provided
Exclusion Criteria
- •Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial
- •Patient has participated in a study employing investigational drug within 30 days of the start of this study
- •Patient has received prior treatment with enzyme replacement therapy
- •Patient is unable to comply with the clinical protocol
Outcomes
Primary Outcomes
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
Time Frame: Baseline, Week 24 and Week 48
Skin biopsies were taken at Baseline, Week 24 and Week 48 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
Secondary Outcomes
- Plasma GL-3(Baseline, Week 24 and Week 48)