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Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases

NCT02309866 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2014-12-05

No results posted yet for this study

Summary

Retinitis Pigmentosa (RP) is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1:3500. It is one of the most genetically heterogenous conditions in humans, with over 100 causative genes and loci reported to date. However, in approximately 40% of patients the underlying genetic causes are yet to be found.

The current study aims to identify causative RP genes and mutations in Israeli families of various ethnic backgrounds. Identification of such genes will contribute significantly to disease prevention (by identification of high risk families and appropriate genetic counseling) and to the investigators understanding of retinal structure and function and of the etiology of RP.

Conditions

Interventions

GENETIC

Genetic testing

Genetic testing for mutations in known and novel genes underlying RP and allied diseases

Sponsors & Collaborators

  • Technion, Israel Institute of Technology

    collaborator OTHER

  • Hillel Yaffe Medical Center

    lead OTHER_GOV

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-01-31
Primary Completion
2017-01-31
Completion
2018-01-31

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02309866 on ClinicalTrials.gov