NCT03990727

Brief 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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
17,000

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Aug 2009

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

August 1, 2009

Completed
9.9 years until next milestone

First Submitted

Initial submission to the registry

June 11, 2019

Completed
2 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 13, 2019

Completed
6 days until next milestone

First Posted

Study publicly available on registry

June 19, 2019

Completed
6.3 years until next milestone

Study Completion

Last participant's last visit for all outcomes

September 30, 2025

Completed
Last Updated

June 19, 2019

Status Verified

June 1, 2019

Enrollment Period

9.9 years

First QC Date

June 11, 2019

Last Update Submit

June 16, 2019

Conditions

Retinitis PigmentosaCone DystrophyUsher SyndromesRetina; Dystrophy

Outcome Measures

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.

    8 years

Secondary Outcomes (1)

  • Preliminary Natural History

    5 years

Study Arms (4)

Retinitis pigmentosa

Any type of retina dystrophy with pigment / retinitis pigmentosa

Diagnostic Test: Retina Analysis-mosaicDiagnostic Test: AutofluorescenceDiagnostic Test: OCT- 1 micraProcedure: Genotype analysis

Usher Syndrome

Retina dystrophy or retinitis pigmentosa associated with audition problems

Diagnostic Test: Retina Analysis-mosaicDiagnostic Test: AutofluorescenceDiagnostic Test: OCT- 1 micraProcedure: Genotype analysis

Cone>rod syndromes

Retina dystrophy diagnosed or started in central vision.

Diagnostic Test: Retina Analysis-mosaicDiagnostic Test: AutofluorescenceDiagnostic Test: OCT- 1 micraProcedure: Genotype analysis

Retinitis pigmentosa sx

Retinitis pigmentosa with any type of other features

Diagnostic Test: Retina Analysis-mosaicDiagnostic Test: AutofluorescenceDiagnostic Test: OCT- 1 micraProcedure: Genotype analysis

Interventions

Retina Analysis-mosaicDIAGNOSTIC_TEST

Fundus retina pattern study

Cone>rod syndromesRetinitis pigmentosaRetinitis pigmentosa sxUsher Syndrome
AutofluorescenceDIAGNOSTIC_TEST

Fundus reflectance-functionality

Cone>rod syndromesRetinitis pigmentosaRetinitis pigmentosa sxUsher Syndrome
OCT- 1 micraDIAGNOSTIC_TEST

Fine tomography fundus retina

Cone>rod syndromesRetinitis pigmentosaRetinitis pigmentosa sxUsher Syndrome
Genotype analysisPROCEDURE

Molecular target retina dystrophy analysis

Cone>rod syndromesRetinitis pigmentosaRetinitis pigmentosa sxUsher Syndrome

Eligibility Criteria

Age2 Weeks - 90 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

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

You may qualify if:

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

You may not qualify if:

  • \) Not willing to visit every year.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Retina and Genomics Institute

Mérida, Yucatán, 97130, Mexico

RECRUITING

Related Publications (2)

  • Villanueva, Adda L., et al.

    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.

    RESULT

MeSH Terms

Conditions

Retinitis PigmentosaCone DystrophyUsher SyndromesRetinal Dystrophies

Interventions

Optical ImagingGenotype

Condition Hierarchy (Ancestors)

Eye Diseases, HereditaryEye DiseasesRetinal DegenerationRetinal DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDeaf-Blind DisordersDeafnessHearing LossHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesHearing Loss, SensorineuralSensation DisordersNeurologic ManifestationsNervous System DiseasesBlindnessVision DisordersAbnormalities, MultipleCongenital AbnormalitiesSigns and SymptomsPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Diagnostic ImagingDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesGenetic Phenomena

Central Study Contacts

A Villanueva, MD

CONTACT

019992233623dr.villanueva@mejoravisionmd.com

Gelly Cuevas, MS

CONTACT

+521 (999) 4060506research.biobanks@mejoravisionmd.com

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
PROSPECTIVE
Target Duration
3 Years
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 11, 2019

First Posted

June 19, 2019

Study Start

August 1, 2009

Primary Completion

June 13, 2019

Study Completion

September 30, 2025

Last Updated

June 19, 2019

Record last verified: 2019-06

Data Sharing

IPD Sharing
Will share

It will be share by publication papers.

Shared Documents
SAP, CSR
Time Frame
1a
Access Criteria
To organism with known knowledge in the field. To expand analysis in same field. Via digital, by contacting administrator.
More information

Locations

ME(1)