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

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

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.

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.