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RecruitingNCT03990727Updated Jun 19, 2019

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

An observational study in Retinitis Pigmentosa, Cone Dystrophy and Usher Syndromes, sponsored by MejoraVisionMD. Recruiting at 1 site in Mexico. Open to participants aged 2 Weeks to 90 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2019-06-19.

Sponsored by MejoraVisionMD · Observational

Study type
Observational
Model
Family-based
Time perspective
Prospective
Enrollment
17,000
Ages
2 Weeks to 90 Years
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Retinitis Pigmentosa
  • Cone Dystrophy
  • Usher Syndromes
  • Retina; Dystrophy
03

Who can participate

Ages eligible
2 Weeks to 90 Years
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

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

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

Exclusion Criteria:

  1. Not willing to visit every year.
04

Study design

Observational model
Family-based
Time perspective
Prospective
Enrollment
17,000 participants (estimated)
Target follow-up
3 Years
Patient registry
Yes

Groups and cohorts

  • Retinitis pigmentosa

    Any type of retina dystrophy with pigment / retinitis pigmentosa

    Diagnostic Test: Retina Analysis-mosaic · Diagnostic Test: Autofluorescence · Diagnostic Test: OCT- 1 micra · Procedure: Genotype analysis

  • Usher Syndrome

    Retina dystrophy or retinitis pigmentosa associated with audition problems

    Diagnostic Test: Retina Analysis-mosaic · Diagnostic Test: Autofluorescence · Diagnostic Test: OCT- 1 micra · Procedure: Genotype analysis

  • Cone>rod syndromes

    Retina dystrophy diagnosed or started in central vision.

    Diagnostic Test: Retina Analysis-mosaic · Diagnostic Test: Autofluorescence · Diagnostic Test: OCT- 1 micra · Procedure: Genotype analysis

  • Retinitis pigmentosa sx

    Retinitis pigmentosa with any type of other features

    Diagnostic Test: Retina Analysis-mosaic · Diagnostic Test: Autofluorescence · Diagnostic Test: OCT- 1 micra · Procedure: Genotype analysis

Interventions

  • Diagnostic testRetina Analysis-mosaic

    Fundus retina pattern study

  • Diagnostic testAutofluorescence

    Fundus reflectance-functionality

  • Diagnostic testOCT- 1 micra

    Fine tomography fundus retina

  • ProcedureGenotype analysis

    Molecular target retina dystrophy analysis

05

What researchers measure

Primary outcomes

  1. 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.

    Time frame: 8 years

Secondary outcomes

  1. Preliminary Natural History

    Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame

    Time frame: 5 years

06

Study locations

1 of 1 sites recruiting
07

References and documents

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.

Individual participant data

Plan to share: Yes — It will be share by publication papers.

Supporting information: Sap, Csr

08

Registry details

Key details

Study ID
NCT03990727
Lead sponsor
MejoraVisionMD
Collaborators
Maisonneuve-Rosemont Hospital, Retina and Genomics Institute
Responsible party
Sponsor
First posted
Jun 19, 2019
Start date
Aug 2009
Primary completion
Jun 13, 2019
Completion
Sep 30, 2025 (estimated)
Last update
Jun 19, 2019

Study contacts

A Villanueva, MD
Contact
dr.villanueva@mejoravisionmd.com
019992233623
Gelly Cuevas, MS
Contact
research.biobanks@mejoravisionmd.com
+521 (999) 4060506

Oversight

Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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