A Study of Fabrazyme in Pediatric Patients With Fabry Disease

Phase 2

Completed

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.

Recruitment & Eligibility

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

Arm && Interventions

Group	Intervention	Description
Fabrazyme	Fabrazyme (agalsidase beta)	1.0 mg/kg of Fabrazyme given to the patients every 2 weeks

Primary Outcome Measures

Name	Time	Method
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin	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 Outcome Measures

Name	Time	Method
Plasma GL-3	Baseline, Week 24 and Week 48	Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.

Locations (7): University of Arizona
🇺🇸
Tucson, Arizona, United States
Hopital de la Timone Enfants
🇫🇷
Marseille, France
Hopital Edouard Herriot
🇫🇷
Lyon, France
Hopital Europeen Georges Pompidou
🇫🇷
Paris, France
Royal Manchester Children's Hospital
🇬🇧
Pendlebury, Manchester, United Kingdom
Instytut Pomnik Centrum Zdrowia Dziecka
🇵🇱
Warsaw, Poland
Great Ormond Street Hospital for Sick Children
🇬🇧
London, United Kingdom