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Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.
Raphael Schiffmann1, Mary Kay Floeter, James M Dambrosia
1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA. rs4e@nih.gov
Muscle & Nerve
|November 26, 2003
Summary
Enzyme replacement therapy (ERT) for Fabry disease over three years showed modest improvements in neuropathic pain and sweat function. This suggests ERT may help manage small-fiber neuropathy symptoms in Fabry patients.
Area of Science:
- Neurology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease is an X-linked disorder caused by alpha-galactosidase A deficiency.
- This deficiency leads to glycosphingolipid accumulation, causing small-fiber neuropathy, pain, and hypohidrosis.
Purpose of the Study:
- To evaluate the long-term effects of enzyme replacement therapy (ERT) on small-fiber neuropathy in Fabry disease.
- To assess ERT's impact on neuropathic pain, sensory function, and sweat excretion over three years.
Main Methods:
- A 3-year open-label extension of a placebo-controlled trial involving 26 hemizygous Fabry patients receiving ERT (0.2 mg/kg every 2 weeks).
- Assessed neuropathic pain, quantitative sensory testing, quantitative sudomotor axon reflex test (QSART), and thermoregulatory sweat test (TST).
Main Results:
- Patients switching from placebo to ERT showed decreased pain scores (6.9 to 4.5) and reduced cold/warm sensation thresholds.
- Sweat excretion improved post-infusion (0.57 microl/mm(2)) and normalized in four anhidrotic patients, confirmed by TST.
Conclusions:
- Prolonged ERT offers modest but significant improvement in small-fiber neuropathy symptoms of Fabry disease.
- QSART may aid in optimizing ERT dosage and frequency for better clinical outcomes.