The Classification and Cause of Leukodystrophies of Unknown Cause
Lysosomal Storage Disease
About this trial
This is an observational trial for Lysosomal Storage Disease focused on measuring White Matter, Myelin, Degenerative Diseases, Genetic, Oligodendrocytes, Leukodystrophy
Eligibility Criteria
INCLUSION CRITERIA: Candidates for participation in the protocol will be patients of all ages with clinical and radiographic signs of leukodystrophy who do not have a specific etiology despite a previous comprehensive workup. The preceding investigation would have excluded the following: adrenoleukodystrophy, adrenomyeloneuropathy, metachromatic leukodystrophy, Krabbe disease, Canavan disease, a well-defined amino acid organic acid disorder, or a systemic mitochondrial cytopathy. First -degree relatives of patients with leukodystrophies of unknown etiology (father, mother, siblings, or sons and daughters of the patients) EXCLUSION CRITERIA: Refusal to sign the protocol consent form. Candidates who are unable to travel to the National Institutes of Health Clinical Center.
Sites / Locations
- University of California, San Francisco
- Childrens National Medical Center
- Institut National de la Sante' et de la Recherche Medicale
- Tel Aviv University
- Academiseh Ziuekenhuis Vrije Universiteit