An observational study in Fabry Disease, sponsored by Danish Pain Research Center. Completed at 1 site in Denmark. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2007-11-16.
Sponsored by Danish Pain Research Center · Observational
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.
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's enrollment of 25 is below the median of 100 across 123 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →Danish Pain Research Center is the lead sponsor of 24 studies on the registry; none are open to participants now.
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This study is completed, as verified in Nov 2007. You cannot join it, but the record below documents what was studied.
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Danish Pain Research Center