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

NCT ID: NCT03990727

Last Updated: 2019-06-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

17000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-08-31

Study Completion Date

2025-09-30

Brief Summary

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

Detailed Description

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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.

Conditions

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Retinitis Pigmentosa Cone Dystrophy Usher Syndromes Retina; Dystrophy

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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Retinitis pigmentosa

Any type of retina dystrophy with pigment / retinitis pigmentosa

Retina Analysis-mosaic

Intervention Type DIAGNOSTIC_TEST

Fundus retina pattern study

Autofluorescence

Intervention Type DIAGNOSTIC_TEST

Fundus reflectance-functionality

OCT- 1 micra

Intervention Type DIAGNOSTIC_TEST

Fine tomography fundus retina

Genotype analysis

Intervention Type PROCEDURE

Molecular target retina dystrophy analysis

Usher Syndrome

Retina dystrophy or retinitis pigmentosa associated with audition problems

Retina Analysis-mosaic

Intervention Type DIAGNOSTIC_TEST

Fundus retina pattern study

Autofluorescence

Intervention Type DIAGNOSTIC_TEST

Fundus reflectance-functionality

OCT- 1 micra

Intervention Type DIAGNOSTIC_TEST

Fine tomography fundus retina

Genotype analysis

Intervention Type PROCEDURE

Molecular target retina dystrophy analysis

Cone>rod syndromes

Retina dystrophy diagnosed or started in central vision.

Retina Analysis-mosaic

Intervention Type DIAGNOSTIC_TEST

Fundus retina pattern study

Autofluorescence

Intervention Type DIAGNOSTIC_TEST

Fundus reflectance-functionality

OCT- 1 micra

Intervention Type DIAGNOSTIC_TEST

Fine tomography fundus retina

Genotype analysis

Intervention Type PROCEDURE

Molecular target retina dystrophy analysis

Retinitis pigmentosa sx

Retinitis pigmentosa with any type of other features

Retina Analysis-mosaic

Intervention Type DIAGNOSTIC_TEST

Fundus retina pattern study

Autofluorescence

Intervention Type DIAGNOSTIC_TEST

Fundus reflectance-functionality

OCT- 1 micra

Intervention Type DIAGNOSTIC_TEST

Fine tomography fundus retina

Genotype analysis

Intervention Type PROCEDURE

Molecular target retina dystrophy analysis

Interventions

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Retina Analysis-mosaic

Fundus retina pattern study

Intervention Type DIAGNOSTIC_TEST

Autofluorescence

Fundus reflectance-functionality

Intervention Type DIAGNOSTIC_TEST

OCT- 1 micra

Fine tomography fundus retina

Intervention Type DIAGNOSTIC_TEST

Genotype analysis

Molecular target retina dystrophy analysis

Intervention Type PROCEDURE

Eligibility Criteria

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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.
Minimum Eligible Age

2 Weeks

Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Maisonneuve-Rosemont Hospital

OTHER

Sponsor Role collaborator

Retina and Genomics Institute

UNKNOWN

Sponsor Role collaborator

MejoraVisionMD

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Retina and Genomics Institute

Mérida, Yucatán, Mexico

Site Status RECRUITING

Countries

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Mexico

Central Contacts

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A Villanueva, MD

Role: CONTACT

019992233623

Gelly Cuevas, MS

Role: CONTACT

+521 (999) 4060506

Facility Contacts

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AL Villanueva, MD

Role: primary

9992233623

Gelly Cuevas, MS

Role: backup

01 (999) 4060586

References

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Villanueva, Adda L., et al.

Reference Type RESULT

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.

Reference Type RESULT

Other Identifiers

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RETMxMap

Identifier Type: -

Identifier Source: org_study_id

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