Natural history of vision loss in USH1B (MYO7A) and validation of virtual-reality vision tests

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational natural-history project enrolling people with biallelic pathogenic or likely pathogenic MYO7A variants (USH1B) to document retinal degeneration over time using retinal imaging and standard clinical measures. The protocol also includes validation of functional-vision tests delivered in virtual reality (VR) and complementary patient-reported outcome questionnaires, including Streetlab mobility and visual-search tasks. Participants will undergo repeated imaging, vision testing, VR performance tasks, and questionnaires to map decline and determine which measures are reliable, sensitive, and practical for future interventional trials. Subsets performing VR tests must meet additional language and cochlear-implant criteria to ensure comprehension of instructions.

Why it matters

Who can join: the full rules

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.

Where it's running

• Centre National d'Ophtalmologie des Quinze-Vingts
  Paris, Île-de-France Region, France Recruiting

Study contacts

• Principal investigator: Isabelle Audo, Pr — Centre National d'Ophtalmologie des Quinze-Vingts
• Study coordinator: Isabelle AUDO, Pr
• Email: isabelle.audo@inserm.fr
• Phone: +330140021430

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.