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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.

Primary conditionUsher SyndromesRegistry: Retinitis PigmentosaReclassifiedWhy we changed it
Registry
Retinitis Pigmentosa — the first condition term the registry derived for this study.
ClinicalTrials.gg
Usher Syndromes
Why
  1. The study's listed conditions name Usher Syndromes, a narrower term within Retinitis Pigmentosa.
Confidence
High: the new condition is named in the study's own listed conditions. Of 351 hand-checked studies reclassified this way, 68% were exactly right and 84% in the right disease family; the registry's first term was right for 5% (measured 2026-10-21). How we classify →
Wrong?
Tell us the study's main condition →

Sponsored by MejoraVisionMD · Observational

From the registry’s dates

  • Started Aug 2009; still recruiting 17 years 3 months later.
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.

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Conditions studied

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

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03

In context

Usher Syndromes Reclassified

33 studies on the registry are indexed under Usher Syndromes; 13 are open to participants now.

This study's planned enrollment of 17,000 is above the median of 165 across 14 observational studies indexed under Usher Syndromes.

Browse Usher Syndromes studies →

Lead sponsor

This is the only study on the registry with MejoraVisionMD as lead sponsor.

Compared within Usher Syndromes, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Retinitis Pigmentosa. The counts are of registry records indexed under each term, refreshed daily. How we classify →

04

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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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.
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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

06

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

07

Study locations

1 of 1 sites recruiting
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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: Statistical analysis plan, Clinical study report

Time frame: 1a

Access criteria: To organism with known knowledge in the field. To expand analysis in same field. Via digital, by contacting administrator.

Data sharing details ↗ · mejoravisionmd.com

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Ran from Aug 2009 to primary completion in Jun 2019, 118 months.

How these figures are worked out, and which studies are left out of them.

Registered
Jun 11, 2019
First posted
Jun 19, 2019
StartActual
Aug 2009
Primary completionActual
Jun 13, 2019
CompletionEst.
Sep 30, 2025
Last update
Jun 19, 2019
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jun 19, 2019, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

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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