Neuropathic Pain and Fabry Disease
|ClinicalTrials.gov Identifier: NCT00168974|
Recruitment Status : Completed
First Posted : September 15, 2005
Last Update Posted : November 16, 2007
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|
|Study Type :||Observational|
|Enrollment :||25 participants|
|Official Title:||Somatosensoric and Autonomic Disturbances in Female Patients With Fabry Disease|
|Study Start Date :||January 2004|
|Actual Study Completion Date :||November 2007|
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00168974
|Danish Pain Research Center, Aarhus University Hospital|
|Aarhus, Denmark, 8000|
|Principal Investigator:||Anette T Moller, MD||Danish Pain Research Center|
|Study Chair:||Troels S Jensen, MD, PhD||Danish Pain Research Center|