An observational study in Usher Syndrome, sponsored by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts. Recruiting at 1 site in France. Open to participants aged 3 Years to 75 Years. Per ClinicalTrials.gov, last updated 2026-02-10.
Sponsored by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts · Observational
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.
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:
33 studies on the registry are indexed under Usher Syndromes; 13 are open to participants now.
This study's planned enrollment of 60 is below the median of 165 across 14 observational studies indexed under Usher Syndromes.
Browse Usher Syndromes studies →Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts is the lead sponsor of 28 studies on the registry; 16 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with Usher syndrome (USB1B)
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
For participants in the MOST-VR mobility test and VR-ViSA visual search test (Streetlab), additional criteria apply:
Exclusion Criteria:
For participants in the MOST-VR mobility and VR-ViSA visual search tests, the following non-inclusion criteria apply:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Short tests of memory and thinking, each scored out of 30. Lower scores suggest more difficulty; criteria give a range, either to include people with memory problems or to leave them out.
MMSE and MoCA
Short tests of memory and thinking, each scored out of 30. Lower scores suggest more difficulty; criteria give a range, either to include people with memory problems or to leave them out.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
3-5 years old
Diagnostic Test: Vision tests · Diagnostic Test: Retinal imaging
6-13 years old
Diagnostic Test: Vision tests · Diagnostic Test: Retinal imaging
14-75 years old
Diagnostic Test: Vision tests · Diagnostic Test: Retinal imaging · Diagnostic Test: Questionnaires · Diagnostic Test: Streetlab performance 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.
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.
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.
Virtual reality-based functional tests evaluating mobility (MOST-VR) and visual search performance (VR-ViSA) to assess real-world vision-related abilities.
Best Corrected Visual Acuity (BCVA)
Change in visual acuity measured using the ETDRS scale over the course of the study.
Time frame: The BCVA is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. This assessment is taking 15 minutes.
Electroretinography (ERG)
Evaluation of photoreceptor function decline assessed by electroretinography (ERG).
Time frame: The Retinal Degeneration Progression is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The ERG is taking 60 minutes.
Full-field stimulus testing (FST)
Evaluation of photoreceptor function decline assessed by full-field stimulus testing (FST).
Time frame: The Retinal Degeneration Progression is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The FST is taking 90 minutes.
Retinal Structure
Changes in retinal morphology assessed by spectral-domain OCT (SD-OCT).
Time frame: The Retinal structure measurement is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The SD-OCT is taking 25 minutes.
Fundus autofluorescence (FAF)
Changes in retinal morphology assessed by fundus autofluorescence (FAF).
Time frame: The Retinal structure measurement is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The FAF is taking 15 minutes.
OCT angiography (OCT-A)
Changes in retinal morphology assessed by OCT angiography (OCT-A).
Time frame: The Retinal structure measurement is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The OCT-A is taking 25 minutes.
Michigan Vision-Related Anxiety Questionnaire (MAVQ)
Changes in vision-related anxiety and quality of life using the Michigan Vision-Related Anxiety Questionnaire (MAVQ).
Time frame: The Patient-reported outcomes is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The MAVQ is taking 30 minutes.
Michigan Retinal Degeneration Questionnaire (MRDQ)
Changes in vision-related anxiety and quality of life using the Michigan Retinal Degeneration Questionnaire (MRDQ).
Time frame: The Patient-reported outcomes is assessed at Day 0 = initial visit, at Month 12, at Month 24, at Month 36 and Month 48 = end of the study. The MRDQ is taking 30 minutes.
MOST-VR (MObility Standardized Test in Virtual Reality)
Mobility search performance measured by Streetlab tests (MOST-VR).
Time frame: The Functional Perfomance is assessed at Day 0 = initial visit, during Day 1 to Day 30 for reproductibility visits and at M24 (24 months). The MOST-VR is taking 75 minutes.
VR-ViSA (Visual Search Assessment in Virtual Reality)
Visual search performance measured by Streetlab test (VR-ViSA).
Time frame: The Functional Perfomance is assessed at Day 0 = initial visit, during Day 1 to Day 30 for reproductibility visits and at Month 24. The VR-ViSA is taking 75 minutes.
Plan to share: Undecided
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Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts