Trial Outcomes & Findings for Multicenter, Non-interventional Study, Describing Patients With Inherited Retinal Disease (IRD) in France (NCT NCT05122442)

Results Overview

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

Recruitment status

COMPLETED

Target enrollment

998 participants

Primary outcome timeframe

12 month

Results posted on

2026-01-27

Participant Flow

Participant milestones

Participant milestones
Measure	Patients With Inherited Retinal Disease All patients clinically diagnosed with IRD or with high suspicion for IRDs based on clinical examination and functional tests, regardless of genetic testing
Overall Study STARTED	998
Overall Study COMPLETED	998
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Race and Ethnicity were not collected from any participant.

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Patients With Inherited Retinal Disease n=982 Participants All patients clinically diagnosed with IRD or with high suspicion for IRDs based on clinical examination and functional tests, regardless of genetic testing
Age, Continuous	38.92 years STANDARD_DEVIATION 19.58 • n=982 Participants
Sex: Female, Male Female	479 Participants n=982 Participants
Sex: Female, Male Male	503 Participants n=982 Participants

PRIMARY outcome

Timeframe: 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

Outcome measures

Outcome measures
Measure	Patients With Inherited Retinal Disease n=982 Participants All patients clinically diagnosed with IRD or with high suspicion for IRDs based on clinical examination and functional tests, regardless of genetic testing
Proportion of Patients by Type of IRD Isolated progressive inherited retinal disorders	720 Participants
Proportion of Patients by Type of IRD Syndromic inherited retinal disorders	174 Participants
Proportion of Patients by Type of IRD Isolated stationary inherited retinal disorders	30 Participants
Proportion of Patients by Type of IRD Other	58 Participants

Adverse Events

Patients With Inherited Retinal Disease

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Hélène DOLLFUS

Hôpitaux Universitaires de Strasbourg (HUS)/ Strasbourg University Hospital

Phone: 388115415

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place