Machado-Joseph Disease in Israel

• Conditions: Spinocerebellar Ataxia 3

• Registration Number: NCT02175290
• Lead Sponsor: Meir Medical Center

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

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2014-06
• Study First Submitted: 2014-06-22
• Study First Submitted QC: 2014-06-25
• Study First Posted: 2014-06-26
• Status Verified: 2016-04
• Last Update Submitted: 2017-03-15
• Last Update Posted: 2017-03-16
• Primary Completion: 2017-06
• Study Completion: 2018-06

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 250

Inclusion Criteria

• Spinocerebellar Ataxia 3 Yemenite Jews patients

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Exclusion Criteria

• All others

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
clinical phenotype of SCA3 Yemenite Jews patients	3 years

Trial Locations

Locations (1)

Department of Neurology, Meir Medical Center; 🇮🇱 Kfar-saba, Israel