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

Overview

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

Full Title of Study: “Phenotype Correlates Genotype of Inherited Retina Dystrophies”

Study Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: June 13, 2019

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.

Interventions

  • 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

Arms, Groups and Cohorts

  • Retinitis pigmentosa
    • Any type of retina dystrophy with pigment / retinitis pigmentosa
  • Usher Syndrome
    • Retina dystrophy or retinitis pigmentosa associated with audition problems
  • Cone>rod syndromes
    • Retina dystrophy diagnosed or started in central vision.
  • Retinitis pigmentosa sx
    • Retinitis pigmentosa with any type of other features

Clinical Trial Outcome Measures

Primary Measures

  • 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.

Secondary Measures

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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 2 Weeks

Maximum Age: 90 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • MejoraVisionMD
  • Collaborator
    • Maisonneuve-Rosemont Hospital
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Contact(s)
    • A Villanueva, MD, 019992233623, dr.villanueva@mejoravisionmd.com

Citations Reporting on Results

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.

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