An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease
Status:
Completed
Trial end date:
1969-12-31
Target enrollment:
Participant gender:
Summary
This study will continue to evaluate the safety of using intravenous doses of Replagal for
two patients with Fabry disease. Fabry disease is a genetic disorder inherited as an X-linked
recessive trait. It causes a deficiency in the enzyme alpha galactosidase, which normally
breaks down a lipid, or fatty substance called ceramidetrihexoside, a building block in all
cells of the body. The deficiency in breaking down the lipid eventually causes that lipid to
accumulate and injure cells. Vascular, renal, and neurological problems are the results. It
is not known exactly how lipid accumulation brings about such problems, studies of another
lipid storage disorder.
Two patients 7 to 17 years of age who have Fabry disease and have been receiving intravenous
infusions of Replagal at a dose of 0.2 mg/kg of body weight every 2 weeks may be eligible for
this study.
Participants will undergo the following tests and procedures:
- Physical examination.
- Neurological examination.
- Medical and medication history.
- Vital signs.
- Assessment of height and weight.
- Blood tests to determine complete blood count and chemistries.
- Electrocardiogram.
- Doppler blood flow study.
Participants will go through a baseline evaluation, over a period of about 1 day. They will
receive an intravenous infusion of Replagal every other week, at the dose of 0.2 mg/kg of
body weight. Vital signs will be measured before the infusion and immediately and after and 1
hour afterward. There will be careful monitoring for allergic reactions and side effects. The
infusion time takes approximately 40 minutes.
This study will last at least 1 year, or until the sponsor doing the investigating or the
drug manufacturer decides to withdraw support of the study.
Phase:
Phase 1
Details
Lead Sponsor:
National Institute of Neurological Disorders and Stroke (NINDS)