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Clinical 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. 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.

Clinical Trial Description


Study Design

Related Conditions & MeSH terms

NCT number NCT05122442
Study type Observational
Source University Hospital, Strasbourg, France
Contact Hélène DOLFFUS
Phone +33 3 88 11 69 96
Email [email protected]
Status Not yet recruiting
Start date November 2021
Completion date October 2022