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

November 4, 2021 updated by: University Hospital, Strasbourg, 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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Strasbourg, France, 67000
        • Les Hôpitaux Universitaires

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with inherited retinal disease

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Proportion of patients with IRD by clinical presentation
Time Frame: 12 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.
12 month

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ANTICIPATED)

November 1, 2021

Primary Completion (ANTICIPATED)

October 1, 2022

Study Completion (ANTICIPATED)

October 1, 2022

Study Registration Dates

First Submitted

October 21, 2021

First Submitted That Met QC Criteria

November 4, 2021

First Posted (ACTUAL)

November 16, 2021

Study Record Updates

Last Update Posted (ACTUAL)

November 16, 2021

Last Update Submitted That Met QC Criteria

November 4, 2021

Last Verified

October 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 8173

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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