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Machado-Joseph Disease in Israel

Sponsor
Meir Medical Center (Other)
Overall Status
Unknown status
CT.gov ID
NCT02175290
Collaborator
(none)
250
Enrollment
1
Location
48
Duration (Months)
5.2
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA-3) is the most common dominant ataxia. The genetic cause of this late-onset degenerative disorder is the expansion of a (CAG)n tract located in the exonic region of the ATXN3 gene. In 1994 the first case of MJD among the Yemenite Jewish subpopulation living in Israel was published. The puropse of this study is to describe the clinical phenotype and genotype of the Yemenite Jewish subpopulation with MJD living in Israel

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    250 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation
    Study Start Date :
    Jun 1, 2014
    Anticipated Primary Completion Date :
    Jun 1, 2017
    Anticipated Study Completion Date :
    Jun 1, 2018

    Arms and Interventions

    Arm Intervention/Treatment
    Spinocerebellar Ataxia 3 Yemenite Jews patients

    Outcome Measures

    Primary Outcome Measures

    1. clinical phenotype of SCA3 Yemenite Jews patients [3 years]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • Spinocerebellar Ataxia 3 Yemenite Jews patients
    Exclusion Criteria:
    • All others

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Department of Neurology, Meir Medical Center Kfar-saba Israel 44281

    Sponsors and Collaborators

    • Meir Medical Center

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Meir Medical Center
    ClinicalTrials.gov Identifier:
    NCT02175290
    Other Study ID Numbers:
    • MMC140006CTIL
    First Posted:
    Jun 26, 2014
    Last Update Posted:
    Mar 16, 2017
    Last Verified:
    Apr 1, 2016
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Additional relevant MeSH terms:
    Spinocerebellar Ataxias
    Spinocerebellar Degenerations
    Machado-Joseph Disease

    Study Results

    No Results Posted as of Mar 16, 2017