NCT07278843

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 60 (estimated)
• Sponsor: Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts · Academic / Other
• Sex: All
• Age: 3 Years – 75 Years
• Healthy volunteers: Not accepted

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.

Detailed description

Inherited retinal diseases (IRDs) are a heterogeneous group of disorders that gradually lead to severe visual impairment, with limited therapeutic options available. Rod dystrophy, also known as retinitis pigmentosa (RP), is the most common form of IRD, with an estimated global prevalence of 1 in 4,500. Approximately 20% to 30% of rod-cone dystrophy cases are syndromic, with Usher syndrome (USH) being the most frequent. USH has an estimated prevalence of 1 to 4 per 25,000 individuals and accounts for 50% of all cases of deafblindness and 3% to 6% of all cases of childhood deafness. Usher syndrome type 1 (USH1) is the most severe form of the disease. It typically presents with congenital severe-to-profound sensorineural hearing loss, vestibular areflexia, and early-onset rod-cone dystrophy, usually within the first decade of life. Mutations in nine different genes have been associated with USH1, among which biallelic mutations in the MYO7A gene account for approximately 70% of cases. This specific subtype is referred to as USH1B. There is currently no approved treatment for USH1B, representing a significant unmet medical need for this severe condition. Objectives: 1. To study the natural history of retinal degeneration in a large USH1B patient cohort. 2. To validate functional vision tests based on virtual reality, along with two patient-reported outcome questionnaires.

Conditions

• Usher Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Vision tests	Standardized assessments of visual function including best corrected visual acuity (BCVA), low vision acuity (BRVT), low luminance visual acuity (LLVA), color and contrast sensitivity tests, visual field measurements, and electroretinography (ERG) to evaluate retinal function.
DIAGNOSTIC_TEST	Retinal imaging	Advanced imaging techniques such as optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT angiography (OCT-A) are used to visualize retinal structure and detect abnormalities.
DIAGNOSTIC_TEST	Questionnaires	Patient-reported outcome measures including the Michigan Vision-Related Anxiety Questionnaire (MAVQ) and the Michigan Retinal Degeneration Questionnaire (MRDQ) assess the psychological and quality-of-life impacts of retinal degeneration.
DIAGNOSTIC_TEST	Streetlab performance tests	Virtual reality-based functional tests evaluating mobility (MOST-VR) and visual search performance (VR-ViSA) to assess real-world vision-related abilities.

Timeline

• Start date: 2025-10-13
• Primary completion: 2032-09-01
• Completion: 2032-09-01
• First posted: 2025-12-12
• Last updated: 2026-02-10

Locations

1 site across 1 country: France