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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
16
1 mg/kg every 2 weeks
University of Arizona
Tucson, Arizona, United States
Hopital Edouard Herriot
Lyon, France
Hopital de la Timone Enfants
Marseille, France
Hopital Europeen Georges Pompidou
Paris, France
Instytut Pomnik Centrum Zdrowia Dziecka
Warsaw, Poland
Royal Manchester Children's Hospital
Pendlebury, Manchester, United Kingdom
Great Ormond Street Hospital for Sick Children
London, United Kingdom
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
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).
Time frame: Baseline, Week 24 and Week 48
Plasma GL-3
Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.
Time frame: Baseline, Week 24 and Week 48
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