Inherited Retinal DiseaseEPI-genRETNCT05122442
Multicenter, Non-interventional Study, Describing Patients With Inherited Retinal Disease (IRD) in France
An observational study of Inherited Retinal Disease, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
Genetic diagnostic testing becomes increasingly important for enhancing our understanding of the disease notably the genetics and providing the best care to the patients, and several initiatives seek to gather more data in order to better understand and treat those diseases. Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Inherited Retinal Disease
- What is being tested?
- Patients with inherited retinal disease
- How many people
- 998 participants
- Where
- 1 siteFrance
- Study dates
- 30 Nov 2021to 1 Dec 2023
- Phase
- Observational
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with inherited retinal disease Attending a consultation in 7 IRD reference centres in France
Who may be able to join
- All patients, whatever age or gender, clinically diagnosed with IRD or with high suspicion for IRDs based on clinical examination and functional tests (such as fundus exam and ERG), regardless of genetic testing
- Patients who attended a consultation at one of the participating centers from SENSGENE network over the inclusion period starting from sites initiation
- Patients who had been prescribed a genetic test for IRD prior to or at the date of inclusion.
Who cannot join
- Patients/Parents/Legally authorized representatives (LAR) opposed to the collection and processing of their medical data/the medical data of their children/the medical data of the person for whom they are LAR;
- Patients who are suffering from any other retinal disorder or optic neuropathy that may clinically or genetically overlap with IRD or non-genetic (phenocopy);
- Patients/parents/Legally authorized representatives (LAR) refusing genetic testing;
- Patients lacking decision-making capacity: Mental incapacity, unwillingness, or language barriers precluding adequate understanding or cooperation.
Trial locations and contacts
1 site in 1 country.
About this study
Genetic diagnostic testing becomes increasingly important for enhancing our understanding of the disease notably the genetics and providing the best care to the patients, and several initiatives seek to gather more data in order to better understand and treat those diseases.
Within this context, Novartis and SENSGENE/Strasbourg University Hospitals (HUS) want to set up, through a research collaboration, a non-interventional study in France to better understand the epidemiology of IRDs, particularly the distribution of pathogenic variants in patients. This study aims to serve as a starter study to implement an IRD national registry led by SENSGENE/Strasbourg University Hospitals (HUS). The data collected might also be used to populate global European registries. The primary objective has been defined in a sufficient broad way to address this perspective of registries.
As IRDs can present from birth to late middle age, this study will include both children and adult patients regardless of age, sex, and the type of IRD.
- Conditions
- Inherited Retinal Disease
- Being tested
- Patients with inherited retinal disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Patients with inherited retinal diseaseOther
Patients with inherited retinal disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of Patients by Type of IRD
To describe the genetic testing characteristics To describe the distribution of variant of uncertain significance (VUS - class 3 variants) in IRD-associated genes To describe the proportion of unsolved patients To describe the type of pathogenic variants in each IRD-associated gene identified
Measured: 12 month
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Nov 2021
- Study start30 Nov 2021
- Primary completion1 Dec 2023
- Study completion1 Dec 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Inherited Retinal DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Cross-sectional
- Enrolment
- 998 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05122442
- Sponsor's protocol ID
- 8173
- Acronym
- EPI-genRET
- Status last verified
- Nov 2025
- First submitted
- 21 Oct 2021
- Last updated
- 27 Jan 2026
- Results posted
- Yes, on ClinicalTrials.gov
- 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 27 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multicenter, Non-interventional Study, Describing Patients With Inherited Retinal Disease (IRD) in France
- ClinicalTrials.gov ID
- NCT05122442
- Acronym / sponsor ID
- EPI-genRET / 8173
- Conditions
- Inherited Retinal Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 998 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 30 Nov 2021 (actual)
- Primary completion
- 1 Dec 2023 (actual)
- Study completion
- 1 Dec 2023 (actual)
- First posted
- 16 Nov 2021 (actual)
- Results
- Posted 27 Jan 2026
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Genetic diagnostic testing becomes increasingly important for enhancing our understanding of the disease notably the genetics and providing the best care to the patients, and several initiatives seek to gather more data in order to better understand and treat those diseases.
Within this context, Novartis and SENSGENE/Strasbourg University Hospitals (HUS) want to set up, through a research collaboration, a non-interventional study in France to better understand the epidemiology of IRDs, particularly the distribution of pathogenic variants in patients. This study aims to serve as a starter study to implement an IRD national registry led by SENSGENE/Strasbourg University Hospitals (HUS). The data collected might also be used to populate global European registries. The primary objective has been defined in a sufficient broad way to address this perspective of registries.
As IRDs can present from birth to late middle age, this study will include both children and adult patients regardless of age, sex, and the type of IRD.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with inherited retinal disease Attending a consultation in 7 IRD reference centres in France
Key inclusion criteria (3 listed)
- All patients, whatever age or gender, clinically diagnosed with IRD or with high suspicion for IRDs based on clinical examination and functional tests (such as fundus exam and ERG), regardless of genetic testing
- Patients who attended a consultation at one of the participating centers from SENSGENE network over the inclusion period starting from sites initiation
- Patients who had been prescribed a genetic test for IRD prior to or at the date of inclusion.
Key exclusion criteria (4 listed)
- Patients/Parents/Legally authorized representatives (LAR) opposed to the collection and processing of their medical data/the medical data of their children/the medical data of the person for whom they are LAR;
- Patients who are suffering from any other retinal disorder or optic neuropathy that may clinically or genetically overlap with IRD or non-genetic (phenocopy);
- Patients/parents/Legally authorized representatives (LAR) refusing genetic testing;
- Patients lacking decision-making capacity: Mental incapacity, unwillingness, or language barriers precluding adequate understanding or cooperation.
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 |
|---|---|---|
| Patients with inherited retinal diseasePatients with inherited retinal disease | Other | – |
Primary outcome
Proportion of Patients by Type of IRD
Time frame: 12 month
To describe the genetic testing characteristics To describe the distribution of variant of uncertain significance (VUS - class 3 variants) in IRD-associated genes To describe the proportion of unsolved patients To describe the type of pathogenic variants in each IRD-associated gene identified
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jan 2026.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
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 Inherited Retinal Disease, run by University Hospital, Strasbourg, France 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 3 inclusion and 4 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: finished, as of the sponsor's last update on 27 Jan 2026. 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?
Yes. Results are posted in the registry (first posted 27 Jan 2026). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Proportion of Patients by Type of IRD (time frame: 12 month). 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 27 Jan 2026.