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Neuropathic Pain and Fabry Disease

NCT00168974 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2007-11-16

No results posted yet for this study

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.

Conditions

Sponsors & Collaborators

  • Danish Pain Research Center

    lead OTHER

Principal Investigators

  • Anette T Moller, MD · Danish Pain Research Center

  • Troels S Jensen, MD, PhD · Danish Pain Research Center

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2004-01-31
Completion
2007-11-30

Countries

  • Denmark

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00168974 on ClinicalTrials.gov