NCT07278843 Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
| NCT ID | NCT07278843 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts |
| Condition | Usher Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 60 participants |
| Start Date | 2025-10-13 |
| Primary Completion | 2032-09 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 60 participants in total. It began in 2025-10-13 with a primary completion date of 2032-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
Inclusion Criteria: * 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. Exclusion Criteria: * Unable to participate in all study visits; * Expected to enter an experimental treatment trial at any time during this study; * 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.); * Participation in the previous gene replacement trial (USHSTAT, NCT01505062); * 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; * 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.
Contact & Investigator
Isabelle Audo, Pr
PRINCIPAL INVESTIGATOR
Centre National d'Ophtalmologie des Quinze-Vingts
Frequently Asked Questions
Who can join the NCT07278843 clinical trial?
This trial is open to participants of all sexes, aged 3 Years or older, up to 75 Years, studying Usher Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07278843 currently recruiting?
Yes, NCT07278843 is actively recruiting participants. Contact the research team at isabelle.audo@inserm.fr for enrollment information.
Where is the NCT07278843 trial being conducted?
This trial is being conducted at Paris, France.
Who is sponsoring the NCT07278843 clinical trial?
NCT07278843 is sponsored by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts. The principal investigator is Isabelle Audo, Pr at Centre National d'Ophtalmologie des Quinze-Vingts. The trial plans to enroll 60 participants.