Dosing Study of Replagal in Patients With Fabry Disease
Status:
Completed
Trial end date:
2013-12-01
Target enrollment:
Participant gender:
Summary
This study will determine the safety and effectiveness of increasing Replagal infusions in
certain patients with Fabry disease. Replagal is a genetically engineered form of
Alpha-galactosidase A, an enzyme that normally breaks down a fatty substance called
globotriaosylceramide (Gb3). In patients with Fabry disease, Alpha-galactosidase A does not
function properly and, therefore, Gb3 builds up, causing problems with the kidneys, heart,
nerves, and blood vessels.
Patients with Fabry disease who are participating in NIH protocol 00-N-0185 or 02-N-0220 may
be eligible for this study. This includes patients who are currently taking Replagal but
whose kidney function continues to worsen, or patients who have certain test results that are
much improved after Replagal infusion.
Participants will receive Replagal infusions (0.2 mg/kg body weight) through a vein once a
week (as opposed to the previous dosage of once every 2 weeks) for up to 2 years. The first
infusion, and some others, are given at the NIH Clinical Center, but most are administered by
the patient's local doctor. Vital signs are measured before, immediately after, and 1 hour
after each infusion.
Baseline evaluations are done on an inpatient basis at the NIH Clinical Center over a 1-week
period before and after the first Replagal infusion and at 6-month intervals during the
study. Tests include a check of vital signs (temperature, respiratory rate, pulse rate, and
blood pressure); weight measurement; physical and neurological examinations; routine blood
and urine tests; 24-hour urine collection; electrocardiogram; and review of treatment side
effects. In addition, the following tests are done:
- Quantitative sensory testing: This is a non-invasive test to measure the ability to
sense warm, cold and vibration in the hand and foot.
- QSART: This test measures the amount of sweat in a particular area of skin that did not
sweat enough. A small amount of a medicine called acetylcholine is put on the skin and
made to enter the skin using a very small electric current.
- Doppler skin blood flow: This test measures blood flow to the blood vessels of the skin.
A machine takes pictures of blood flow in the skin of the forearm using a laser beam.
Pictures are taken before and during application of medicines that cause blood vessels
to dilate. Acetylcholine is used on one forearm and nitroprusside is used on the other.
The medication is made to enter the skin using a small el...
Phase:
Phase 2
Details
Lead Sponsor:
Baylor Research Institute
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)