NCT02175290

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

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
250

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jun 2014

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2014

Completed
21 days until next milestone

First Submitted

Initial submission to the registry

June 22, 2014

Completed
4 days until next milestone

First Posted

Study publicly available on registry

June 26, 2014

Completed
2.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2017

Completed
1 year until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2018

Completed
Last Updated

March 16, 2017

Status Verified

April 1, 2016

Enrollment Period

3 years

First QC Date

June 22, 2014

Last Update Submit

March 15, 2017

Conditions

Spinocerebellar Ataxia 3

Outcome Measures

Primary Outcomes (1)

  • clinical phenotype of SCA3 Yemenite Jews patients

    3 years

Study Arms (1)

Spinocerebellar Ataxia 3 Yemenite Jews patients

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Spinocerebellar Ataxia 3 Yemenite Jews patients

You may qualify if:

  • Spinocerebellar Ataxia 3 Yemenite Jews patients

You may not qualify if:

  • All others

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Department of Neurology, Meir Medical Center

Kfar Saba, 44281, Israel

RECRUITING

MeSH Terms

Conditions

Machado-Joseph Disease

Condition Hierarchy (Ancestors)

Spinocerebellar AtaxiasCerebellar AtaxiaCerebellar DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesSpinocerebellar DegenerationsSpinal Cord DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesAtaxiaDyskinesiasNeurologic ManifestationsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Carlos R Gordon, MD;DSc

CONTACT

972-9-7471581cgordon@post.tau.ac.il

Roy Zaltzman, MD;PhD

CONTACT

972-9-7471581royzaltzman@gmail.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
3 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 22, 2014

First Posted

June 26, 2014

Study Start

June 1, 2014

Primary Completion

June 1, 2017

Study Completion

June 1, 2018

Last Updated

March 16, 2017

Record last verified: 2016-04

Locations

IL(1)