Retinitis PigmentosaNCT03990727
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
An observational study of Retinitis Pigmentosa and Cone Dystrophy, run by MejoraVisionMD at 1 site in Mexico.
Trial 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 more about this study
- Who is it for?
- Ages 2 weeks to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes
- What is being tested?
- Retina Analysis-mosaic, Autofluorescence and OCT- 1 micra
- Type of treatment
- Surgery or procedure
- How many people
- 17,000 participants
- Where
- 1 siteMexico
- Study dates
- Aug 2009to 30 Sep 2025
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 weeks to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Inherited retina dystrophies / Retinitis pigmentosa, LCA, Cone-rod dystrophy
Who may be able to join
- Diagnosis of inherited retina dystrophy or retinitis pigmentosa
- Must be able to perform all study tests.
- Must be able to visit every year.
Who cannot join
- 1) Not willing to visit every year.
Trial locations and contacts
1 site in 1 country.
Mexico1 site, 1 recruiting
- Recruiting
Retina and Genomics Institute
Mérida, Yucatán, 97130
AL Villanueva, MD, 9992233623, dr.villanueva@mejoravisionmd.com
Gelly Cuevas, MS, 01 (999) 4060586, alva@mejoravisionmd.com
About this study
Official title: Phenotype Correlates Genotype of Inherited Retina Dystrophies
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.
- Being tested
- Retina Analysis-mosaic, Autofluorescence, OCT- 1 micra, Genotype analysis
- Medical subject headings
- Retinitis Pigmentosa, Cone Dystrophy, Usher Syndromes, Retinal Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Retina Analysis-mosaicDiagnostic test
Fundus retina pattern study
AutofluorescenceDiagnostic test
Fundus reflectance-functionality
OCT- 1 micraDiagnostic test
Fine tomography fundus retina
Genotype analysisProcedure or surgery
Molecular target retina dystrophy analysis
| Study group | Role | What they receive |
|---|---|---|
| Retinitis pigmentosa | Any type of retina dystrophy with pigment / retinitis pigmentosa Receives: 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 Receives: 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. Receives: 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 Receives: Diagnostic Test: Retina Analysis-mosaic; Diagnostic Test: Autofluorescence; Diagnostic Test: OCT- 1 micra; Procedure: Genotype analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 8 years
Secondary outcomes (1)
Preliminary Natural History
Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jun 2019
- Study startAug 2009
- Primary completion13 Jun 2019
- Study completion30 Sep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Retinitis PigmentosaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 17,000 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- MejoraVisionMD
- Sponsor type
- Research network
- Collaborators
- Maisonneuve-Rosemont Hospital, Retina and Genomics Institute
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03990727
- Sponsor's protocol ID
- RETMxMap
- Status last verified
- Jun 2019
- First submitted
- 11 Jun 2019
- Last updated
- 19 Jun 2019
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: It will be share by publication papers.
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.
Study at a glance
From the registry record, last updated by the sponsor on 19 Jun 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phenotype Correlates Genotype of Inherited Retina Dystrophies
- ClinicalTrials.gov ID
- NCT03990727
- Acronym / sponsor ID
- RETMxMap
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 17,000 participants (estimated)
- Lead sponsor
- MejoraVisionMDResearch network
- Collaborators
- Maisonneuve-Rosemont Hospital, Retina and Genomics Institute
- Study start
- Aug 2009 (actual)
- Primary completion
- 13 Jun 2019 (actual)
- Study completion
- 30 Sep 2025 (estimated)
- First posted
- 19 Jun 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Retinitis pigmentosa | – | Diagnostic Test: Retina Analysis-mosaic, Diagnostic Test: Autofluorescence, Diagnostic Test: OCT- 1 micra, Procedure: Genotype analysisAny type of retina dystrophy with pigment / retinitis pigmentosa |
| Usher Syndrome | – | Diagnostic Test: Retina Analysis-mosaic, Diagnostic Test: Autofluorescence, Diagnostic Test: OCT- 1 micra, Procedure: Genotype analysisRetina dystrophy or retinitis pigmentosa associated with audition problems |
| Cone>rod syndromes | – | Diagnostic Test: Retina Analysis-mosaic, Diagnostic Test: Autofluorescence, Diagnostic Test: OCT- 1 micra, Procedure: Genotype analysisRetina dystrophy diagnosed or started in central vision. |
| Retinitis pigmentosa sx | – | Diagnostic Test: Retina Analysis-mosaic, Diagnostic Test: Autofluorescence, Diagnostic Test: OCT- 1 micra, Procedure: Genotype analysisRetinitis pigmentosa with any type of other features |
Who may qualify
- Ages
- 2 weeks to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Inherited retina dystrophies / Retinitis pigmentosa, LCA, Cone-rod dystrophy
Key inclusion criteria (3 listed)
- Diagnosis of inherited retina dystrophy or retinitis pigmentosa
- Must be able to perform all study tests.
- Must be able to visit every year.
Key exclusion criteria (1 listed)
- 1) Not willing to visit every year.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Retina Analysis-mosaicFundus retina pattern study | Diagnostic test | Cone>rod syndromes, Retinitis pigmentosa, Retinitis pigmentosa sx, Usher Syndrome |
| AutofluorescenceFundus reflectance-functionality | Diagnostic test | Cone>rod syndromes, Retinitis pigmentosa, Retinitis pigmentosa sx, Usher Syndrome |
| OCT- 1 micraFine tomography fundus retina | Diagnostic test | Cone>rod syndromes, Retinitis pigmentosa, Retinitis pigmentosa sx, Usher Syndrome |
| Genotype analysisMolecular target retina dystrophy analysis | Procedure or surgery | Cone>rod syndromes, Retinitis pigmentosa, Retinitis pigmentosa sx, Usher Syndrome |
Primary outcome
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.
1 secondary outcome
Preliminary Natural History
Time frame: 5 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jun 2019.
- Results publicationVillanueva, Adda L., et al.
- Results publicationVillanueva, 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 dataSharing planned: Yes. It will be share by publication papers.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa and Cone Dystrophy, run by MejoraVisionMD at 1 site in Mexico.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Jun 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Mexico. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact A Villanueva, MD (019992233623, dr.villanueva@mejoravisionmd.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis, (time frame: 8 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03990727, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jun 2019.