Fabry Disease Clinical Trial
Official title:
Somatosensoric and Autonomic Disturbances in Female Patients With Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a
deficiency of the lysosomal enzyme α-galactosidase causing accumulation of
glycosphingolipids in the vascular endothelial cells and many other tissues. An early sign
of the disease is painful small fibre neuropathy presenting in two forms: 1. a constant
burning sensation in the hand and feet and 2. Fabry crises consisting of attacks of
excruciating pain. Given the X-linked inheritance, male patients are severely affected.
Recently attention has been drawn to female patients whether they also show signs of nerve
involvement.
The purpose of this study is to evaluate the small fibre neuropathy in female Fabry
patients. Correlation with X-chromosome inactivation will be attempted. Recombinant human
α-galactosidase A is now available for patients. A part of this study is evaluation the long
term efficacy of enzyme replacement therapy in female patients with Fabry disease and
neuropathy.
Male family members with Fabry disease will be examined.
n/a
Time Perspective: Prospective
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
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||
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| Recruiting |
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| Completed |
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|
Phase 1 | |
| Completed |
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|
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| Completed |
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|
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||
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