Hereditary Retinal DystrophiesGEPHIRDNCT03662386
Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
An observational study of Hereditary Retinal Dystrophies, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial summary
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data. The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may… Read more about this study
- Who is it for?
- Ages 15 years and older
- Conditions the study is for
- Hereditary Retinal Dystrophies
- What is being tested?
- OCT-A and Visual acuity (ETDRS)
- Type of treatment
- Surgery or procedure
- How many people
- 103 participants
- Where
- 1 siteFrance
- Study dates
- 14 Sep 2018to 14 Mar 2025
- 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 15 years and older
- All sexes
- Child, Adult, Older adult
Study population: Patients hospitalized for suspicion of hereditary retinal distrophy
Who may be able to join
- Patients hospitalized for suspicion of hereditary retinal dystrophy
- Benefiting as part of the care of a genetic analysis
Who cannot join
- Patient under a measure of legal protection
Trial locations and contacts
1 site in 1 country.
About this study
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.
The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).
- Conditions
- Hereditary Retinal Dystrophies
- Being tested
- OCT-A, Visual acuity (ETDRS)
- Keywords
- hereditary retinal dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
OCT-AProcedure or surgery
Optical coherence tomography angiography (OCT-A)
Visual acuity (ETDRS)Procedure or surgery
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)
| Study group | Role | What they receive |
|---|---|---|
| Patients with suspicion of hereditary retinal dystrophy | Not described Receives: Procedure: OCT-A; Procedure: Visual acuity (ETDRS) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.
Phenotypic diagnosis of the type of retinal dystrophy based on all the examinations performed as part of the usual care and examinations added by the research (OCT-Angiography - Optical coherence tomography, and visual acuity with ETDRS scale : Early Treatment Diabetic Retinal Study, ETDRS).
Measured: Baseline
Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
Determination of the genetic mutations responsible for retinal dystrophy in order to confirm the phenotypic diagnosis and identify correlation between the phenotypic and genotypic characteristics
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Sep 2018
- Study start14 Sep 2018
- Primary completion14 Mar 2025
- Study completion14 Mar 2025
Why it stopped: Insufficient enrollment
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Retinal DystrophiesStudies of the same condition, open and under way.
- More trials run by Fondation Ophtalmologique Adolphe de RothschildThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 103 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
- Investigators
- Elise BOULANGER SCEMAMA, Principal investigator, Fondation Ophtalmologique A. de Rothschild
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03662386
- Sponsor's protocol ID
- EBA_2017_21
- Acronym
- GEPHIRD
- Status last verified
- Dec 2025
- First submitted
- 1 Aug 2018
- Last updated
- 10 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 10 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
- ClinicalTrials.gov ID
- NCT03662386
- Acronym / sponsor ID
- GEPHIRD / EBA_2017_21
- Conditions
- Hereditary Retinal Dystrophies
- Keywords
- hereditary retinal dystrophies
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Insufficient enrollment
- Enrolment
- 103 participants (actual)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 14 Sep 2018 (actual)
- Primary completion
- 14 Mar 2025 (actual)
- Study completion
- 14 Mar 2025 (actual)
- First posted
- 7 Sep 2018 (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.
This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.
The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with suspicion of hereditary retinal dystrophy | – | Procedure: OCT-A, Procedure: Visual acuity (ETDRS) |
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Patients hospitalized for suspicion of hereditary retinal distrophy
Key inclusion criteria (2 listed)
- Patients hospitalized for suspicion of hereditary retinal dystrophy
- Benefiting as part of the care of a genetic analysis
Key exclusion criteria (1 listed)
- Patient under a measure of legal protection
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 |
|---|---|---|
| OCT-AOptical coherence tomography angiography (OCT-A) | Procedure or surgery | Patients with suspicion of hereditary retinal dystrophy |
| Visual acuity (ETDRS)Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study) | Procedure or surgery | Patients with suspicion of hereditary retinal dystrophy |
Primary outcome
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.
Time frame: Baseline
Phenotypic diagnosis of the type of retinal dystrophy based on all the examinations performed as part of the usual care and examinations added by the research (OCT-Angiography - Optical coherence tomography, and visual acuity with ETDRS scale : Early Treatment Diabetic Retinal Study, ETDRS).
Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
Time frame: Baseline
Determination of the genetic mutations responsible for retinal dystrophy in order to confirm the phenotypic diagnosis and identify correlation between the phenotypic and genotypic characteristics
Results and safety
The study was stopped early (reason given: Insufficient enrollment). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Dec 2025.
- Individual participant dataSharing planned: Undecided
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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.
Elise BOULANGER SCEMAMA principal investigator
Fondation Ophtalmologique A. de Rothschild
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 Hereditary Retinal Dystrophies, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
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 2 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: stopped early, as of the sponsor's last update on 10 Dec 2025. 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 France. 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?
The study was stopped early (reason given: Insufficient enrollment). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies. (time frame: Baseline). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 10 Dec 2025.