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

ConditionUsher Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age3-75
SponsorCentre Hospitalier National d'Ophtalmologie des Quinze-Vingts

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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);

Sufficient knowledge of spoken and signed French to ensure understanding of tasks and instructions;

Disqualifiers

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);

Trial population

Patients with Usher syndrome (USB1B)

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • Vision tests

    Diagnostic test

    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.

  • Retinal imaging

    Diagnostic test

    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.

  • Questionnaires

    Diagnostic test

    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.

  • Streetlab performance tests

    Diagnostic test

    Virtual reality-based functional tests evaluating mobility (MOST-VR) and visual search performance (VR-ViSA) to assess real-world vision-related abilities.

Treatment groups

60 Participants
are divided into 3 treatment groups
Group A: Pediatric Cohort 12 interventions
Group B: Pediatric Cohort 22 interventions
Group C: Adult Cohort4 interventions

Trial outcomes

Primary outcomes

1

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.
2

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.
3

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.

Secondary outcomes

1

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.
2

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.
3

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.
4

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.

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Lead sponsor

Source ClinicalTrials.gov
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