NCT00168974

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jan 2004

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 1, 2004

Completed
1.7 years until next milestone

First Submitted

Initial submission to the registry

September 13, 2005

Completed
2 days until next milestone

First Posted

Study publicly available on registry

September 15, 2005

Completed
2.1 years until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2007

Completed
Last Updated

November 16, 2007

Status Verified

November 1, 2007

First QC Date

September 13, 2005

Last Update Submit

November 15, 2007

Conditions

Fabry Disease

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • All adult patients with confirmed Fabry disease

You may not qualify if:

  • Patients who cannot cooperate
  • Patients who are unable to understand the purpose

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Danish Pain Research Center, Aarhus University Hospital

Aarhus, 8000, Denmark

Location

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Anette T Moller, MD

    Danish Pain Research Center

    PRINCIPAL INVESTIGATOR

  • Troels S Jensen, MD, PhD

    Danish Pain Research Center

    STUDY CHAIR

Study Design

Study Type
observational
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER

Study Record Dates

First Submitted

September 13, 2005

First Posted

September 15, 2005

Study Start

January 1, 2004

Study Completion

November 1, 2007

Last Updated

November 16, 2007

Record last verified: 2007-11

Locations

DK(1)