Neuropathic Pain and Fabry Disease
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Study Design
Outcome Measures
Primary Outcome Measures
Eligibility Criteria
Criteria
Inclusion Criteria:
- All adult patients with confirmed Fabry disease
Exclusion Criteria:
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Patients who cannot cooperate
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Patients who are unable to understand the purpose
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Danish Pain Research Center, Aarhus University Hospital | Aarhus | Denmark | 8000 |
Sponsors and Collaborators
- Danish Pain Research Center
Investigators
- Principal Investigator: Anette T Moller, MD, Danish Pain Research Center
- Study Chair: Troels S Jensen, MD, PhD, Danish Pain Research Center
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- Fabry2003