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Neuropathic Pain and Fabry Disease

This study has been completed.
Sponsor:
Information provided by:
Danish Pain Research Center
ClinicalTrials.gov Identifier:
NCT00168974
First received: September 13, 2005
Last updated: November 15, 2007
Last verified: November 2007
  Purpose

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
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
  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria

Inclusion Criteria:

  • All adult patients with confirmed Fabry disease

Exclusion Criteria:

  • Patients who cannot cooperate
  • Patients who are unable to understand the purpose
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00168974

Locations
Denmark
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
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00168974     History of Changes
Other Study ID Numbers: Fabry2003
Study First Received: September 13, 2005
Last Updated: November 15, 2007
Health Authority: Denmark: National Board of Health

Additional relevant MeSH terms:
Fabry Disease
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Cardiovascular Diseases
Central Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Lipidoses
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Sphingolipidoses
Vascular Diseases

ClinicalTrials.gov processed this record on November 24, 2014