Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.

June 16, 2019 updated by: MejoraVisionMD

Phenotype Correlates Genotype of Inherited Retina Dystrophies

Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic, etc.) will be correlated with genotype and validate inheritance mode by segregation analysis. Ocular exam of proband, parents and two unaffected siblings is needed, retina analysis, autofluorescence and ocular coherence tomography (OCT) are needed as well as family map. Blood samples 10ml max blood extraction will be sent and genotype will be analyzed.

Study Type

Observational

Enrollment (Anticipated)

17000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 weeks to 90 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Inherited retina dystrophies / Retinitis pigmentosa, LCA, Cone-rod dystrophy

Description

Inclusion Criteria:

  1. Diagnosis of inherited retina dystrophy or retinitis pigmentosa
  2. Must be able to perform all study tests.
  3. Must be able to visit every year.

Exclusion Criteria:

1) Not willing to visit every year.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Retinitis pigmentosa
Any type of retina dystrophy with pigment / retinitis pigmentosa
Diagnostic test: Retina Analysis-mosaic
Fundus retina pattern study
Diagnostic test: Autofluorescence
Fundus reflectance-functionality
Diagnostic test: OCT- 1 micra
Fine tomography fundus retina
Procedure: Genotype analysis
Molecular target retina dystrophy analysis
Usher Syndrome
Retina dystrophy or retinitis pigmentosa associated with audition problems
Diagnostic test: Retina Analysis-mosaic
Fundus retina pattern study
Diagnostic test: Autofluorescence
Fundus reflectance-functionality
Diagnostic test: OCT- 1 micra
Fine tomography fundus retina
Procedure: Genotype analysis
Molecular target retina dystrophy analysis
Cone>rod syndromes
Retina dystrophy diagnosed or started in central vision.
Diagnostic test: Retina Analysis-mosaic
Fundus retina pattern study
Diagnostic test: Autofluorescence
Fundus reflectance-functionality
Diagnostic test: OCT- 1 micra
Fine tomography fundus retina
Procedure: Genotype analysis
Molecular target retina dystrophy analysis
Retinitis pigmentosa sx
Retinitis pigmentosa with any type of other features
Diagnostic test: Retina Analysis-mosaic
Fundus retina pattern study
Diagnostic test: Autofluorescence
Fundus reflectance-functionality
Diagnostic test: OCT- 1 micra
Fine tomography fundus retina
Procedure: Genotype analysis
Molecular target retina dystrophy analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,
Time Frame: 8 years
Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography.
8 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Preliminary Natural History
Time Frame: 5 years
Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

MejoraVisionMD

Collaborators

Maisonneuve-Rosemont Hospital
Retina and Genomics Institute

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

  • Villanueva, Adda L., et al.
  • Villanueva, A. L., Langlois, M., Mongrain, I., Provost, S., Asselin, G., Dubé, M. P., ... & Ayyagari, R. (2015). ARRP microarray and Exome analysis revealed known and novel mutations in Mexican pedigrees. Investigative Ophthalmology & Visual Science, 56(7), 2866-2866.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2009

Primary Completion (Actual)

June 13, 2019

Study Completion (Anticipated)

September 30, 2025

Study Registration Dates

First Submitted

June 11, 2019

First Submitted That Met QC Criteria

June 16, 2019

First Posted (Actual)

June 19, 2019

Study Record Updates

Last Update Posted (Actual)

June 19, 2019

Last Update Submitted That Met QC Criteria

June 16, 2019

Last Verified

June 1, 2019

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RETMxMap

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

IPD Plan Description

It will be share by publication papers.

IPD Sharing Time Frame

1a

IPD Sharing Access Criteria

To organism with known knowledge in the field. To expand analysis in same field. Via digital, by contacting administrator.

IPD Sharing Supporting Information Type

  • Statistical Analysis Plan (SAP)
  • Clinical Study Report (CSR)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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