Actively Recruiting
Natural History of Photoreceptor Degeneration in 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
359 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official 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
- Carry biallelic class 4 or 5 variants in the MYO7A gene
- Be affiliated with or beneficiary of a social security system
- For MOST-VR and VR-ViSA tests: have sufficient spoken and signed French
- For MOST-VR and VR-ViSA tests: have a cochlear implant and MMSE score of at least 20/25
- For MOST-VR and VR-ViSA tests: be between 18 and 75 years old
You will not qualify if you...
- Unable to participate in all study visits
- Planning to enter an experimental treatment trial during this study
- Have ocular conditions other than retinitis pigmentosa affecting eye status
- Participated in the previous gene replacement trial USHSTAT (NCT01505062)
- Pregnant, delivering, or breastfeeding
- Deprived of liberty by judicial or administrative decision
- Adults under legal protection or unable to provide consent
- For MOST-VR and VR-ViSA tests: MMSE score less than or equal to 20/25
- For MOST-VR and VR-ViSA tests: physical or cognitive impairments affecting mobility
- For MOST-VR and VR-ViSA tests: medications causing motor, visual, or cognitive disorders or interfering with assessments
AI-Screening
AI-Powered Screening
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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
CONTACT
T
Thilissa DIB
CONTACT
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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