Ignite Creation Date:
2024-05-05 @ 11:53 AM
Last Modification Date:
2024-10-26 @ 9:16 AM
Study NCT ID:
NCT00168974
Status:
COMPLETED
Last Update Posted:
2007-11-16
First Post:
2005-09-13
Brief Title:
Neuropathic Pain and Fabry Disease
Sponsor:
Danish Pain Research Center
Organization:
Danish Pain Research Center
Study Overview
Official Title:
Somatosensoric and Autonomic Disturbances in Female Patients With Fabry Disease
Status:
COMPLETED
Status Verified Date:
2007-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None