Status:
COMPLETED
The Nosology and Etiology of Leukodystrophies of Unknown Causes
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Leukodystrophy
Leukoencephalopathy
Eligibility:
All Genders
1-99 years
Brief Summary
Background: \- A leukodystrophy is a disease affecting the white matter of the brain. The white matter conducts electricity from one part of the brain to the other. If the insulation, or myelin, is d...
Detailed Description
Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of 1:5000 live births. As many as 50% of patients with white matter disease remain undiagnosed after conventional n...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Patients with white matter disease that is unclassified or of unknown cause, including, but not limited to leukoencephalopathies with calcifications, leukoencephalopathies with cysts, leukoencephalopathies with hypomyelination and leukoencephalopathies with brainstem involvement.
- Parents or siblings of these subjects
- EXCLUSION CRITERIA:
- Patients meeting above criteria but too ill to travel to the clinical center. In that case, consideration will be given to enrolling them for the collection of medical records and samples only.
- Patients meeting above criteria, but where the leukoencephalopathy is felt to be secondary to an acquired cause, for example traumatic or infectious.
Exclusion
Key Trial Info
Start Date :
April 24 2009
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 1 2018
Estimated Enrollment :
76 Patients enrolled
Trial Details
Trial ID
NCT00889174
Start Date
April 24 2009
End Date
August 1 2018
Last Update
August 3 2018
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892