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

Conditions
Inherited Retinal Disease
Registration Number
NCT05122442
Lead Sponsor
University Hospital, Strasbourg, France
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.

Detailed Description

Not available

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
1000
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Proportion of patients with IRD by clinical presentation12 month

Describe the type of IRD of patients clinically diagnosed and who attended a consultation at one of participating centers from SENSGENE network over the inclusion period.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Les Hôpitaux Universitaires

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Strasbourg, France

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