Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A

Korábbi kezelés

• Participation in the previous gene replacement trial (USHSTAT, NCT01505062);

Más betegség

• 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.

Egyéb

• 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;

• 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.