Actively Recruiting
Natural History of Photoreceptor Degeneration Related to USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Led by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts · Updated on 2026-02-10
60
Participants Needed
1
Research Sites
N/A
Total Duration
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AI-Summary
What this Trial Is About
Researchers are studying Usher syndrome type 1B (USH1B), a severe inherited retinal disease caused by mutations in the MYO7A gene. USH1B leads to early-onset vision loss combined with profound hearing loss and balance issues. This research aims to understand how retinal degeneration progresses in patients with USH1B and to validate functional vision tests using virtual reality and patient questionnaires. Participants will undergo various diagnostic assessments, including vision tests like best corrected visual acuity and electroretinography, along with advanced retinal imaging methods such as optical coherence tomography and fundus autofluorescence. Functional vision will also be evaluated through virtual reality-based mobility and visual search tests. The study includes three age groups: children aged 3-5 years, 6-13 years, and adults aged 14-75 years. During the study, participants will have regular visits over up to 48 months to assess their vision and retinal structure using standardized tests, imaging, and questionnaires. Functional vision tests will be conducted at specific intervals, including reproducibility visits and follow-ups at 24 months. Researchers will monitor changes in visual acuity, retinal function, structure, and patient-reported outcomes to better characterize the natural history of USH1B and validate new tools for assessing vision.
CONDITIONS
Brief Title
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Be at least 3 years old
- Have a clinical diagnosis of USH1 in both eyes with congenital profound deafness, vestibular dysfunction, and rod dystrophy, carrying biallelic class 4 or 5 variants in the MYO7A gene
- Be affiliated with or a beneficiary of a social security system as per French Public Health Code
- For mobility and visual search tests, have sufficient knowledge of spoken and signed French
- For mobility and visual search tests, have a cochlear implant and a Mini-Mental State Examination (MMSE) score of 20/25 or higher
- For mobility and visual search tests, be between 18 and 75 years old
You will not qualify if you...
- Unable to participate in all study visits
- Expected to enter an experimental treatment trial during this study
- Have ocular conditions other than retinitis pigmentosa such as retinal detachment, glaucoma, vein occlusion, or diabetic retinopathy
- Participated in the previous gene replacement trial USHSTAT (NCT01505062)
- Pregnant, delivering, or breastfeeding women
- Persons deprived of liberty by judicial or administrative decision
- Adults under legal protection or unable to provide consent
- For mobility and visual search tests, MMSE score without visual items 20/25 or lower
- Physical or cognitive impairments interfering with mobility
- Use of medications that may cause motor, visual, or cognitive disorders or interfere with assessments such as APS or neuroleptics
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 48 months
Participants undergo standardized assessments of visual function, retinal imaging, and complete patient-reported outcome questionnaires to evaluate the natural history of retinal degeneration and validate functional vision tests.
5 visits over 48 months: at Day 0 (initial visit), Month 12, Month 24, Month 36, and Month 48 (end of study)
Duration - Up to 24 months
Additional functional performance tests evaluating mobility and visual search abilities using virtual reality are conducted for reproducibility and validation.
Multiple visits from Day 1 to Day 30 for reproducibility and at Month 24
Trial Site Locations
Total: 1 location
1
Centre National d'Ophtalmologie des Quinze-Vingts
Paris, Île-de-France Region, France, 75012
Actively Recruiting
Research Team
I
Isabelle AUDO, Pr
T
Thilissa DIB
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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