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

NCT05122442 | Completed Results

• 1 other identifier: 8173
• Study Type: observational
• Target: 998
• Locations: 1 country
• Sites: 1

Brief 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. 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

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

Patients with inherited retinal disease OTHER

Patients with inherited retinal disease

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Les Hôpitaux Universitaires

Strasbourg, 67000, France

Location

Results Point of Contact

• Title: Hélène DOLLFUS
• Organization: Hôpitaux Universitaires de Strasbourg (HUS)/ Strasbourg University Hospital

dpidrci@chru-strasbourg.fr

388115415

Publication Agreements

• PI is Sponsor Employee: Yes

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 21, 2021
• First Posted: November 16, 2021
• Study Start: November 30, 2021
• Primary Completion: December 1, 2023
• Study Completion: December 1, 2023
• Last Updated: January 27, 2026
• Results First Posted: January 27, 2026

Record last verified: 2025-11

Locations

FR (1)