NCT07278843Recruiting
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Natural History of Photoreceptor Degeneration Related to USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
Source: ClinicalTrials.gov · Last updated 10 Feb 2026
Brief summary (registry, in English)
Inherited retinal diseases (IRDs) are a group of degenerative disorders that cause progressive vision loss. Retinitis pigmentosa (RP) is the most common form, with a global prevalence of approximately 1 in 4,500. About 20-30% of these cases are syndromic, most notably Usher syndrome (USH), which combines hearing loss with visual impairment. Usher syndrome type 1 (USH1), the most severe form, presents at birth with profound sensorineural hearing loss, vestibular areflexia, and early-onset retinal degeneration. Biallelic mutations in the MYO7A gene, which define the USH1B subtype, account for 70% of USH1 cases. There is currently no treatment available for this serious condition. The objective of the study is to characterize the natural history of retinal degeneration in USH1B patients and to validate functional vision tests using virtual reality and patient-reported outcome questionnaires.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 60 (estimated)
- First submitted
- 23 Jul 2025
- Start date
- 13 Oct 2025
- Primary completion date
- Sept 2032
- Lead sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
- NCT number
- NCT07278843
What you commit to
- Study type: Observational
- Planned participants: 60
- From 13 Oct 2025 to the primary completion date, Sept 2032
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Participation in the previous gene replacement trial (USHSTAT, NCT01505062);
Other illness
- Presence of ocular conditions that may affect eye status other than retinitis pigmentosa (e.g., history of retinal detachment, glaucoma, vein occlusion, diabetic retinopathy, etc.);
- Physical or cognitive impairment that could interfere with mobility;
- Medication that may cause motor, visual, or cognitive disorders (e.g., APS, neuroleptics) or interfere with study assessments.
Other
- Unable to participate in all study visits;
- Expected to enter an experimental treatment trial at any time during this study;
- Pregnant, delivering, or breastfeeding women (according to article L1121-5 of the French Public Health Code);
- Persons deprived of liberty by judicial or administrative decision (article L1121-6 of the French Public Health Code);
- Adults under legal protection measures or unable to provide consent (article L1121-8 of the French Public Health Code).
- For participants in the MOST-VR mobility and VR-ViSA visual search tests, the following non-inclusion criteria apply:
- MMSE score without visual items ≤ 20/25;
Who the study is looking for
- Be at least 3 years old;
- Have a clinical diagnosis of USH1 in both eyes, meaning subjects with congenital profound deafness, vestibular dysfunction, and rod dystrophy, carrying biallelic class 4 or 5 variants in the MYO7A gene;
- Be affiliated with or beneficiary of a social security system (according to article L1121-8-1 of the French Public Health Code);
- For participants in the MOST-VR mobility test and VR-ViSA visual search test (Streetlab), additional criteria apply:
- Sufficient knowledge of spoken and signed French to ensure understanding of tasks and instructions;
- Have a cochlear implant allowing comprehension of auditory instructions for the virtual reality mobility test and a MMSE score ≥ 20/25;
- Age between 18 and 75 years.
Age in the registry: 3 years to 75 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Centre National d'Ophtalmologie des Quinze-Vingts Coordinator of this site? Confirm its status | Paris | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.