Machado-Joseph Disease in Israel

Spinocerebellar Ataxia 3 Clinical Trial

Official title:

Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02175290
• Other study ID #: MMC140006CTIL
• Status: Recruiting
• Phase: N/A
• First received: June 22, 2014
• Last updated: March 15, 2017
• Start date: June 2014
• Est. completion date: June 2018

Study information

• Verified date: April 2016
• Source: Meir Medical Center
• Contact: Carlos R Gordon, MD;DSc
• Phone: 972-9-7471581
• Email: cgordon[@]post.tau.ac.il
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 250
• Est. completion date: June 2018
• Est. primary completion date: June 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Spinocerebellar Ataxia 3 Yemenite Jews patients

Exclusion Criteria:

• All others

Related Conditions & MeSH terms

• Machado-Joseph Disease
• Spinocerebellar Ataxia 3
• Spinocerebellar Ataxias
• Spinocerebellar Degenerations

Locations

Country	Name	City	State
Israel	Department of Neurology, Meir Medical Center	Kfar-saba

Sponsors (1)

Lead Sponsor	Collaborator
Meir Medical Center

Country where clinical trial is conducted

Israel, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	clinical phenotype of SCA3 Yemenite Jews patients		3 years