Machado-Joseph Disease in Israel

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

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

Study Overview

• Status: Unknown
• Conditions: Spinocerebellar Ataxia 3

• Study Type: Observational
• Enrollment (Anticipated): 250

Contacts and Locations

• Study Contact: Name: Carlos R Gordon, MD;DSc; Phone Number: 972-9-7471581; Email: cgordon@post.tau.ac.il
• Study Contact Backup: Name: Roy Zaltzman, MD;PhD; Phone Number: 972-9-7471581; Email: royzaltzman@gmail.com

Study Locations

• Israel
  • Kfar-saba, Israel, 44281
    • Recruiting
    • Department of Neurology, Meir Medical Center
    • Contact: Carlos R Gordon, MD;DSc; Phone Number: 972-9-7471581; Email: cgordon@post.tau.ac.il

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Spinocerebellar Ataxia 3 Yemenite Jews patients

Description

Inclusion Criteria:

• Spinocerebellar Ataxia 3 Yemenite Jews patients

Exclusion Criteria:

• All others

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Spinocerebellar Ataxia 3 Yemenite Jews patients

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
clinical phenotype of SCA3 Yemenite Jews patients	3 years

Collaborators and Investigators

• Sponsor: Meir Medical Center

Study record dates

Study Major Dates

• Study Start: June 1, 2014
• Primary Completion (Anticipated): June 1, 2017
• Study Completion (Anticipated): June 1, 2018

Study Registration Dates

• First Submitted: June 22, 2014
• First Submitted That Met QC Criteria: June 25, 2014
• First Posted (Estimate): June 26, 2014

Study Record Updates

• Last Update Posted (Actual): March 16, 2017
• Last Update Submitted That Met QC Criteria: March 15, 2017
• Last Verified: April 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neurodegenerative Diseases; Dyskinesias; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Cerebellar Diseases; Ataxia; Cerebellar Ataxia; Spinocerebellar Ataxias; Spinocerebellar Degenerations; Machado-Joseph Disease
• Other Study ID Numbers: MMC140006CTIL

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED