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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT00168974
Other study ID # Fabry2003
Secondary ID
Status Completed
Phase N/A
First received September 13, 2005
Last updated November 15, 2007
Start date January 2004
Est. completion date November 2007

Study information

Verified date November 2007
Source Danish Pain Research Center
Contact n/a
Is FDA regulated No
Health authority Denmark: National Board of Health
Study type Observational

Clinical Trial 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.


Recruitment information / eligibility

Status Completed
Enrollment 25
Est. completion date November 2007
Est. primary completion date
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group 18 Years and older
Eligibility Inclusion Criteria:

- All adult patients with confirmed Fabry disease

Exclusion Criteria:

- Patients who cannot cooperate

- Patients who are unable to understand the purpose

Study Design

Time Perspective: Prospective


Related Conditions & MeSH terms


Locations

Country Name City State
Denmark Danish Pain Research Center, Aarhus University Hospital Aarhus

Sponsors (1)

Lead Sponsor Collaborator
Danish Pain Research Center

Country where clinical trial is conducted

Denmark, 

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