Ignite Creation Date:
2024-05-05 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001491
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
1999-11-03
Brief Title:
Analysis of the Nervous System in Patients With Fabrys Disease
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
The Natural History and Pathogenesis of Fabry Disease
Status:
COMPLETED
Status Verified Date:
2008-03-03
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:
Fabrys disease a genetic disorder X-linked recessive due to the absence of the enzyme ceramidetrihexosidase The disease is characterized by abnormal collections of glycolipids in cells histiocytes within blood vessel walls tumors on the thighs buttocks and genitalia decreased sweating tingling sensations in the extremities and cataracts Patients with Fabry s disease die from complications of the kidney heart or brain
The purpose of this study is to measure levels of a protein marker PGP 95 in the skin blood and fluid surrounding the brain and spinal cord CSF in patients with Fabrys disease In addition the study will attempt to determine if levels of the protein are directly related to the severity of disease in the nervous system
PGP 95 protein levels will be measured in normal volunteers and patients with other diseases of the nervous system then compared to the levels recorded in patients with Fabrys disease
This research study is designed to improve the understanding of Fabrys disease Patients participating in it will not directly benefit from it However knowledge gained as a result of this study may contribute to the development of effective therapies for Fabrys disease
The purpose of this study is to measure levels of a protein marker PGP 95 in the skin blood and fluid surrounding the brain and spinal cord CSF in patients with Fabrys disease In addition the study will attempt to determine if levels of the protein are directly related to the severity of disease in the nervous system
PGP 95 protein levels will be measured in normal volunteers and patients with other diseases of the nervous system then compared to the levels recorded in patients with Fabrys disease
This research study is designed to improve the understanding of Fabrys disease Patients participating in it will not directly benefit from it However knowledge gained as a result of this study may contribute to the development of effective therapies for Fabrys disease
Detailed Description:
OBJECTIVE The purpose of this protocol is to study the natural history of Fabry disease in the different organ systems understand its pathogenesis and develop adequate clinical outcome measures for therapy trials Development of sensitive outcome measures is a prerequisite of enzyme or gene replacement trials in patients with Fabrys disease STUDY POPULATION Patients with Fabry disease of all ages The patients are not foregoing available treatment to participate in this protocol Experimental treatment is not part of this study STUDY DESIGN Patients will typically be seen once a year at NIH Patients will have comprehensive testing in order to evaluate the state of their health as affected by the Fabry disease OUTCOME MEASURES All potential clinically relevant areas will be evaluated comprehensively with a particular emphasis on the vasculopathy and the peripheral neuropathy of Fabry disease
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 95-N-0121 | None | None | None |