NCT00001671|Completed
The Classification and Cause of Leukodystrophies of Unknown Cause
The Nosology and Etiology of Leukodystrophies of Unknown Cause
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The Nosology and Etiology of Leukodystrophies of Unknown Cause
Sponsor study identifier
Secondary identifiers
observational
400
4 countries
5
Study Start
September 9, 1997
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
Not reported
Date not reportedStudy Completion
December 15, 2008
Date type not reportedThis date has not been verified as actual or estimated.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
December 15, 2008
Date type not reportedThis date has not been verified as actual or estimated.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
September 9, 1997
Date type not reportedThis date has not been verified as actual or estimated.
November 3, 1999
Actual (reported)November 4, 1999
Actual (reported)December 15, 2008
Date type not reportedThis date has not been verified as actual or estimated.
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
Aicardi J. The inherited leukodystrophies: a clinical overview. J Inherit Metab Dis. 1993;16(4):733-43. doi: 10.1007/BF00711905.
Schiffmann 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.
Schiffmann 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.
First Submitted
November 3, 1999
First Posted
November 4, 1999
Study Start
September 9, 1997
Date type not reportedThis date has not been verified as actual or estimated.
Study Completion
December 15, 2008
Date type not reportedThis date has not been verified as actual or estimated.
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
Contact the study team to confirm eligibility.
McNeill 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.
Last Updated
July 2, 2017
Record last verified: 2008-12-15
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