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Neuropathic Pain and Fabry Disease

This study has been completed.
Information provided by:
Danish Pain Research Center Identifier:
First received: September 13, 2005
Last updated: November 15, 2007
Last verified: November 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.

Fabry Disease

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Somatosensoric and Autonomic Disturbances in Female Patients With Fabry Disease

Resource links provided by NLM:

Further study details as provided by Danish Pain Research Center:

Estimated Enrollment: 25
Study Start Date: January 2004
Study Completion Date: November 2007

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • All adult patients with confirmed Fabry disease

Exclusion Criteria:

  • Patients who cannot cooperate
  • Patients who are unable to understand the purpose
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Please refer to this study by its identifier: NCT00168974

Danish Pain Research Center, Aarhus University Hospital
Aarhus, Denmark, 8000
Sponsors and Collaborators
Danish Pain Research Center
Principal Investigator: Anette T Moller, MD Danish Pain Research Center
Study Chair: Troels S Jensen, MD, PhD Danish Pain Research Center
  More Information Identifier: NCT00168974     History of Changes
Other Study ID Numbers: Fabry2003
Study First Received: September 13, 2005
Last Updated: November 15, 2007

Additional relevant MeSH terms:
Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on August 16, 2017