Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases

NCT02309866 | Unknown

• 1 other identifier: 83-13
• Study Type: observational
• Target: 100
• Locations: 0 countries
• Sites: N/A

Brief 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

Retinitis Pigmentosa

Outcome Measures

Primary Outcomes (2)

• Percent of patients in whom common founder mutations in known RP-related gene are found

  4 years

• Percent of patients in whom mutations in novel RP-related genes are found

  4 years

Study Arms (1)

Genetic Testing

All participants determined eligible for the study will be placed into genetic testing arm.

Genetic: Genetic testing

Interventions

Genetic testing GENETIC

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

Genetic Testing

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study will be composed of Israeli individuals who have been clinically diagnosed with RP but do not have a confirmed diagnosis by genetic testing.

You may qualify if:

• Patients with RP in which the genetic cause has not been identified yet and their healthy family members

You may not qualify if:

• Patients with RP in which the genetic cause has already been identified

Sponsors & Collaborators

• Hillel Yaffe Medical Center: lead
• Technion, Israel Institute of Technology: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

genomic DNA

MeSH Terms

Conditions

Retinitis Pigmentosa

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 24, 2014
• First Posted: December 5, 2014
• Study Start: January 1, 2015
• Primary Completion: January 1, 2017
• Study Completion: January 1, 2018
• Last Updated: December 5, 2014

Record last verified: 2014-11