NCT07278843

Brief 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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
60

participants targeted

Target at P25-P50 for all trials

Timeline
77mo left

Started Oct 2025

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress8%
Oct 2025Sep 2032

First Submitted

Initial submission to the registry

July 23, 2025

Completed
3 months until next milestone

Study Start

First participant enrolled

October 13, 2025

Completed
2 months until next milestone

First Posted

Study publicly available on registry

December 12, 2025

Completed
6.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 1, 2032

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

September 1, 2032

Last Updated

February 10, 2026

Status Verified

February 1, 2026

Enrollment Period

6.9 years

First QC Date

July 23, 2025

Last Update Submit

February 9, 2026

Conditions

Usher Syndrome

Keywords

RetinaGenetic mutationInherited diseaseRetinis pigmentosaUsher syndrome

Outcome Measures

Primary Outcomes (3)

  • Best Corrected Visual Acuity (BCVA)

    Change in visual acuity measured using the ETDRS scale over the course of the study.

    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).

    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).

    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 (7)

  • Retinal Structure

    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)

    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)

    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)

    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)

    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.

  • +2 more secondary outcomes

Study Arms (3)

Pediatric Cohort 1

3-5 years old

Diagnostic Test: Vision testsDiagnostic Test: Retinal imaging

Pediatric Cohort 2

6-13 years old

Diagnostic Test: Vision testsDiagnostic Test: Retinal imaging

Adult Cohort

14-75 years old

Diagnostic Test: Vision testsDiagnostic Test: Retinal imagingDiagnostic Test: QuestionnairesDiagnostic Test: Streetlab performance tests

Interventions

Vision testsDIAGNOSTIC_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.

Adult CohortPediatric Cohort 1Pediatric Cohort 2
QuestionnairesDIAGNOSTIC_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.

Adult Cohort
Streetlab performance testsDIAGNOSTIC_TEST

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

Adult Cohort
Retinal imagingDIAGNOSTIC_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.

Adult CohortPediatric Cohort 1Pediatric Cohort 2

Eligibility Criteria

Age3 Years - 75 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with Usher syndrome (USB1B)

You may qualify if:

  • 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.

You may not qualify if:

  • 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).
  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Centre National d'Ophtalmologie des Quinze-Vingts

Paris, Île-de-France Region, 75012, France

RECRUITING

MeSH Terms

Conditions

Usher SyndromesGenetic Diseases, Inborn

Interventions

Vision Tests

Condition Hierarchy (Ancestors)

Deaf-Blind DisordersDeafnessHearing LossHearing DisordersEar DiseasesOtorhinolaryngologic DiseasesHearing Loss, SensorineuralSensation DisordersNeurologic ManifestationsNervous System DiseasesBlindnessVision DisordersRetinitis PigmentosaRetinal DystrophiesRetinal DegenerationRetinal DiseasesEye DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesEye Diseases, HereditarySigns and SymptomsPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Diagnostic Techniques, OphthalmologicalDiagnostic Techniques and ProceduresDiagnosis

Study Officials

  • Isabelle Audo, Pr

    Centre National d'Ophtalmologie des Quinze-Vingts

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Isabelle AUDO, Pr

CONTACT

+330140021430isabelle.audo@inserm.fr

Thilissa DIB

CONTACT

+33014021455tdib@15-20.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
48 Months
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 23, 2025

First Posted

December 12, 2025

Study Start

October 13, 2025

Primary Completion (Estimated)

September 1, 2032

Study Completion (Estimated)

September 1, 2032

Last Updated

February 10, 2026

Record last verified: 2026-02

Locations

FR(1)