Machado-Joseph Disease in Israel

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02175290

Enrollment

250

Registered

2014-06-26

Start date

2014-06-30

Completion date

2018-06-30

Last updated

2017-03-16

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Spinocerebellar Ataxia 3

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Inclusion criteria

* Spinocerebellar Ataxia 3 Yemenite Jews patients

Exclusion criteria

* All others

Design outcomes

Primary

Measure	Time frame
clinical phenotype of SCA3 Yemenite Jews patients	3 years

Countries

Israel

Contacts

Primary ContactCarlos R Gordon, MD;DSc

cgordon@post.tau.ac.il972-9-7471581

Backup ContactRoy Zaltzman, MD;PhD

royzaltzman@gmail.com972-9-7471581

Outcome results