Try the modernized beta website. Learn more about the modernization effort.
Working… Menu

Machado-Joseph Disease in Israel

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02175290
Recruitment Status : Unknown
Verified April 2016 by Meir Medical Center.
Recruitment status was:  Recruiting
First Posted : June 26, 2014
Last Update Posted : March 16, 2017
Information provided by (Responsible Party):
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

Condition or disease
Spinocerebellar Ataxia 3

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 250 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Machado-Joseph Disease in Israel: Clinical Phenotype and Genotype of a Jew Yemenite Subpopulation
Study Start Date : June 2014
Estimated Primary Completion Date : June 2017
Estimated Study Completion Date : June 2018

Spinocerebellar Ataxia 3 Yemenite Jews patients

Primary Outcome Measures :
  1. clinical phenotype of SCA3 Yemenite Jews patients [ Time Frame: 3 years ]

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Spinocerebellar Ataxia 3 Yemenite Jews patients

Inclusion Criteria:

  • Spinocerebellar Ataxia 3 Yemenite Jews patients

Exclusion Criteria:

  • All others

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02175290

Layout table for location contacts
Contact: Carlos R Gordon, MD;DSc 972-9-7471581
Contact: Roy Zaltzman, MD;PhD 972-9-7471581

Layout table for location information
Department of Neurology, Meir Medical Center Recruiting
Kfar-saba, Israel, 44281
Contact: Carlos R Gordon, MD;DSc    972-9-7471581   
Sponsors and Collaborators
Meir Medical Center
Additional Information:

Layout table for additonal information
Responsible Party: Meir Medical Center Identifier: NCT02175290    
Other Study ID Numbers: MMC140006CTIL
First Posted: June 26, 2014    Key Record Dates
Last Update Posted: March 16, 2017
Last Verified: April 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Additional relevant MeSH terms:
Layout table for MeSH terms
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Machado-Joseph Disease
Neurologic Manifestations
Nervous System Diseases
Cerebellar Ataxia
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn