Ignite Creation Date:
2024-05-05 @ 10:00 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001671
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
1999-11-03
Brief Title:
The Classification and Cause of Leukodystrophies of Unknown Cause
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
The Nosology and Etiology of Leukodystrophies of Unknown Cause
Status:
COMPLETED
Status Verified Date:
2008-12-15
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:
Leukodystrophy is a disease of the white matter of the brain White matter is the portion of the brain responsible for conducting electrical impulses from one area of the brain to the other Insulating cells called myelin cover the brain and nerve cells in the white matter If myelin becomes damaged electrical information cannot be transferred properly
Many patients suffering from leukodystrophies do not fit the description of any of the defined types of leukodystrophies and are therefore considered to have a leukodystrophy of unknown cause
The purpose of this study is to define groups of patients with leukodystrophies and to work toward finding the cause of the disorders In order to do this researchers will analyze patients with leukodystrophies of unknown causes Patients will undergo clinical neurophysiologic biochemical and genetic examinations and tests
Researchers believe that by studying these patients and their disorders they will be able to better understand the causes of myelin destruction and eventually lead to effective treatments for these disorders
Many patients suffering from leukodystrophies do not fit the description of any of the defined types of leukodystrophies and are therefore considered to have a leukodystrophy of unknown cause
The purpose of this study is to define groups of patients with leukodystrophies and to work toward finding the cause of the disorders In order to do this researchers will analyze patients with leukodystrophies of unknown causes Patients will undergo clinical neurophysiologic biochemical and genetic examinations and tests
Researchers believe that by studying these patients and their disorders they will be able to better understand the causes of myelin destruction and eventually lead to effective treatments for these disorders
Detailed Description:
Patients with leukodystrophies LDs of unknown etiology are a heterogeneous group but constitute the second largest group of genetic white matter diseases The purpose of this study is to a define novel homogeneous groups of patients with LDs and b work toward finding the cause of these disorders In order to achieve these goals patients with LDs of unknown cause will be analyzed clinically neurophysiologically biochemically and genetically Patients would have been diagnosed as having no known leukodystrophies at outside centers At the Clinical Center such patients will undergo a series of neuropsychological blood urine spinal fluid radiological and peripheral tissue pathological tests Some of these tests will be part of a standard battery while others will be tailored to individual patients Patients will be followed for 3 years Patients will be screened for mutations in genes coding for structural myelin proteins In some patients in whom all tests yielded no information regarding the etiology of their disease open brain biopsy will be considered Brain biopsy tissue will be evaluated using a novel combination of approaches including detailed pathological immunohistochemical and biochemical analysis of myelin proteins and lipids Oligodendroglial biology and expression of myelin genes in the brain will also be investigated in situ It is hoped that the present study will help clarify the nosology of the leukodystrophies and significantly advance our understanding of the pathogenesis of these diseases
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 |
|---|---|---|---|
| 97-N-0170 | None | None | None |