6 and older, any sex, with Inherited Retinal Disease. Patients with the condition only — healthy volunteers not accepted.
Results — posted to ClinicalTrials.gov
Per-arm endpoint measurements with 95% confidence intervals where reported. Source: trial results section.
Proportion of Patients by Type of IRDPrimary· 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
Isolated progressive inherited retinal disorders
Group
Value
95% CI
Patients With Inherited Retinal Disease
720
Syndromic inherited retinal disorders
Group
Value
95% CI
Patients With Inherited Retinal Disease
174
Isolated stationary inherited retinal disorders
Group
Value
95% CI
Patients With Inherited Retinal Disease
30
Other
Group
Value
95% CI
Patients With Inherited Retinal Disease
58
Sponsor's own description
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.
Publications & conference data
No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.
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Sponsor: as reported to ClinicalTrials.gov by University Hospital, Strasbourg, France
Last refreshed: 27 January 2026
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT05122442.