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OpenTrials
Completed

NCT Number: NCT05122442

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.

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Key information

Conditions

Inherited Retinal Disease

Age range

6 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Les Hôpitaux Universitaires

Strasbourg, 67000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Patients with inherited retinal disease

Other

Patients with inherited retinal disease

Primary outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

University Hospital, Strasbourg, France

Other

Registry information

Acronym: EPI-genRET

Important dates

Study start
2021
Primary completion
2023
Study completion
2023
First posted
Nov 16, 2021
Registry last updated
Jan 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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