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NCT03990727 Clinical Trial

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

Retinitis Pigmentosa Clinical Trial

Official title:
Phenotype Correlates Genotype of Inherited Retina Dystrophies

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT03990727
Other study ID # RETMxMap
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date August 2009
Est. completion date September 30, 2025

Study information
Verified date June 2019
Source MejoraVisionMD
Contact A Villanueva, MD
Phone 019992233623
Email dr.villanueva@mejoravisionmd.com
Is FDA regulated No
Health authority
Study type Observational [Patient Registry]

Clinical Trial Summary

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

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 17000
Est. completion date September 30, 2025
Est. primary completion date June 13, 2019
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A to 90 Years
Eligibility 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 Design

Related Conditions & MeSH terms

Intervention

Diagnostic Test:
• Retina Analysis-mosaic
Fundus retina pattern study
• Autofluorescence
Fundus reflectance-functionality
• OCT- 1 micra
Fine tomography fundus retina
Procedure:
• Genotype analysis
Molecular target retina dystrophy analysis

Locations
Country Name City State
Mexico Retina and Genomics Institute Merida Yucatan

Sponsors (3)
Lead Sponsor Collaborator
MejoraVisionMD Maisonneuve-Rosemont Hospital, Retina and Genomics Institute

Country where clinical trial is conducted

Mexico, 

References & Publications (2)

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

Villanueva, Adda L., et al.

Outcome
Type Measure Description Time frame Safety issue
Primary Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis, Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography. 8 years
Secondary Preliminary Natural History Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame 5 years
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