Multicenter, Non-interventional Study, Describing Patients With Inherited Retinal Disease (IRD) in France (EPI-genRET)

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 Overview

• Status: Completed
• Conditions: Inherited Retinal Disease
• Intervention / Treatment: Other: Patients with inherited retinal disease

• Study Type: Observational
• Enrollment (Actual): 998

Contacts and Locations

Study Locations

• France
  • Strasbourg, France, 67000
    • Les Hôpitaux Universitaires

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients with inherited retinal disease Attending a consultation in 7 IRD reference centres in France

Description

Inclusion criteria:

• 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.

Exclusion criteria:

• 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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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	12 month

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Evaluate the potential correlation between the patient's genotype and the IRD phenotype	Proportion of "classic cases", i.e. patients whose clinical phenotype is associated with the expected genotype; Proportion of "atypic cases", i.e. patients whose clinical phenotype is associated with unusual/unexpected genotype; Proportion of patients whose type of IRD was modified after definitive molecular genetic diagnosis	12 month
Description of the clinical characteristics	Proportion of patients by: age at first symptoms onset; circumstance of discovery; type of clinical assessments to confirm the clinical diagnosis; age at date of clinical diagnosis; type and number of current symptoms related to IRD at consultation; associated clinical signs; medical history of interestProportion of patients according to the values of visual acuity (VA) and visual field (VF) by patients' clinical characteristicsProportion of patients with a cystoid macular oedema (CME) on last coherence tomography (OCT) doneProportion of patients with preserved macular area appearance by autofluorescence at consultationProportion of patients according to lens statusProportion of patients with cataract at consultationProportion of patients with posterior capsular opacificationProportion of patients with cataract (phakic and pseudophakic) with an impact on VA	12 month
Description of the diagnosis pathway	Proportion of patients by type of clinical assessments performed	12 month
Characteristics of patients	• Proportion of patients by age class, gender, type of occupation and geographical origin	12 month
Description the therapeutic care of patients	Proportion of patients by type of treatments administered for IRD	12 month

Collaborators and Investigators

• Sponsor: University Hospital, Strasbourg, France

Study record dates

Study Major Dates

• Study Start (Actual): November 30, 2021
• Primary Completion (Actual): December 1, 2023
• Study Completion (Actual): December 1, 2023

Study Registration Dates

• First Submitted: October 21, 2021
• First Submitted That Met QC Criteria: November 4, 2021
• First Posted (Actual): November 16, 2021

Study Record Updates

• Last Update Posted (Actual): January 27, 2026
• Last Update Submitted That Met QC Criteria: January 26, 2026
• Last Verified: November 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Eye Diseases; Retinal Diseases
• Other Study ID Numbers: 8173

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No