The Classification and Cause of Leukodystrophies of Unknown Cause
The Nosology and Etiology of Leukodystrophies of Unknown Cause
2 other identifiers
observational
400
4 countries
5
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Sep 1997
Longer than P75 for all trials
5 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 9, 1997
CompletedFirst Submitted
Initial submission to the registry
November 3, 1999
CompletedFirst Posted
Study publicly available on registry
November 4, 1999
CompletedStudy Completion
Last participant's last visit for all outcomes
December 15, 2008
CompletedJuly 2, 2017
December 15, 2008
November 3, 1999
June 30, 2017
Conditions
Keywords
Eligibility Criteria
You may qualify if:
- 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)
You may not qualify if:
- Refusal to sign the protocol consent form.
- Candidates who are unable to travel to the National Institutes of Health Clinical Center.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (5)
University of California, San Francisco
San Francisco, California, 94143, United States
Childrens National Medical Center
Washington D.C., District of Columbia, United States
Institut National de la Sante' et de la Recherche Medicale
Clermont-Ferrand, Cedex, 63001, France
Tel Aviv University
Tel Aviv, Israel
Academiseh Ziuekenhuis Vrije Universiteit
Amsterdam, Netherlands
Related Publications (4)
Aicardi J. The inherited leukodystrophies: a clinical overview. J Inherit Metab Dis. 1993;16(4):733-43. doi: 10.1007/BF00711905.
PMID: 7692130BACKGROUNDSchiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, Alger JR, Parker CC, Hauer PE, Kaneski CR, et al. Childhood ataxia with diffuse central nervous system hypomyelination. Ann Neurol. 1994 Mar;35(3):331-40. doi: 10.1002/ana.410350314.
PMID: 8122885BACKGROUNDSchiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA. Leukodystrophy in patients with ovarian dysgenesis. Ann Neurol. 1997 May;41(5):654-61. doi: 10.1002/ana.410410515.
PMID: 9153528BACKGROUNDMcNeill N, Nasca A, Reyes A, Lemoine B, Cantarel B, Vanderver A, Schiffmann R, Ghezzi D. Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo. Neurol Genet. 2017 Jul 14;3(4):e162. doi: 10.1212/NXG.0000000000000162. eCollection 2017 Aug.
PMID: 28748214DERIVED