Usher SyndromeMYO7ANCT07278843
Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
An observational study of Usher Syndrome, run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 to 75 years
- Conditions the study is for
- Usher Syndrome
- What is being tested?
- Vision tests, Retinal imaging and Questionnaires
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 13 Oct 2025to Sep 2032
- How long will I take part?
- 48 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 75 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with Usher syndrome (USB1B)
Who may be able to join
- 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.
Who cannot join
- 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);
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- 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;
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Centre National d'Ophtalmologie des Quinze-Vingts
Paris, Île-de-France Region, 75012
DRCI, +33 01 40 02 17 38, recherche@15-20.fr
About this study
Official title: Natural History of Photoreceptor Degeneration Related to USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
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.
Read the 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:
- To study the natural history of retinal degeneration in a large USH1B patient cohort.
- To validate functional vision tests based on virtual reality, along with two patient-reported outcome questionnaires.
- Conditions
- Usher Syndrome
- Being tested
- Vision tests, Retinal imaging, Questionnaires, Streetlab performance tests
- Keywords
- Retina, Genetic mutation, Inherited disease, Retinis pigmentosa, Usher syndrome
- Medical subject headings
- Usher Syndromes, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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.
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.
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.
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.
| Study group | Role | What they receive |
|---|---|---|
| Pediatric Cohort 1 | 3-5 years old Receives: Diagnostic Test: Vision tests; Diagnostic Test: Retinal imaging | |
| Pediatric Cohort 2 | 6-13 years old Receives: Diagnostic Test: Vision tests; Diagnostic Test: Retinal imaging | |
| Adult Cohort | 14-75 years old Receives: Diagnostic Test: Vision tests; Diagnostic Test: Retinal imaging; Diagnostic Test: Questionnaires; Diagnostic Test: Streetlab performance tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
Best Corrected Visual Acuity (BCVA)
Change in visual acuity measured using the ETDRS scale over the course of the study.
Measured: 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).
Measured: 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).
Measured: 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
Changes in retinal morphology assessed by spectral-domain OCT (SD-OCT).
Measured: 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).
Measured: 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).
Measured: 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).
Measured: 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).
Measured: 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).
Measured: 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).
Measured: 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Dec 2025
- Study start13 Oct 2025
- Primary completionSep 2032 (estimated)
- Study completionSep 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Usher SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 60 participants (estimated)
- Target duration
- 48 Months
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Isabelle Audo, Pr, Principal investigator, Centre National d'Ophtalmologie des Quinze-Vingts
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07278843
- Sponsor's protocol ID
- P25-01
- Acronym
- MYO7A
- Status last verified
- Feb 2026
- First submitted
- 23 Jul 2025
- Last updated
- 10 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Photoreceptor Degeneration Related to USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A
- ClinicalTrials.gov ID
- NCT07278843
- Acronym / sponsor ID
- MYO7A / P25-01
- Conditions
- Usher Syndrome
- Keywords
- Retina, Genetic mutation, Inherited disease, Retinis pigmentosa, Usher syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-VingtsUniversity, hospital or other
- Study start
- 13 Oct 2025 (actual)
- Primary completion
- Sep 2032 (estimated)
- Study completion
- Sep 2032 (estimated)
- First posted
- 12 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- To study the natural history of retinal degeneration in a large USH1B patient cohort.
- To validate functional vision tests based on virtual reality, along with two patient-reported outcome questionnaires.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 48 Months
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Pediatric Cohort 1 | – | Diagnostic Test: Vision tests, Diagnostic Test: Retinal imaging3-5 years old |
| Pediatric Cohort 2 | – | Diagnostic Test: Vision tests, Diagnostic Test: Retinal imaging6-13 years old |
| Adult Cohort | – | Diagnostic Test: Vision tests, Diagnostic Test: Retinal imaging, Diagnostic Test: Questionnaires, Diagnostic Test: Streetlab performance tests14-75 years old |
Who may qualify
- Ages
- 3 to 75 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Usher syndrome (USB1B)
Key inclusion criteria (7 listed)
- 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;
Key exclusion criteria (11 listed)
- 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);
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Vision testsStandardized 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 | Adult Cohort, Pediatric Cohort 1, Pediatric Cohort 2 |
| Retinal imagingAdvanced 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 | Adult Cohort, Pediatric Cohort 1, Pediatric Cohort 2 |
| QuestionnairesPatient-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 | Adult Cohort |
| Streetlab performance testsVirtual reality-based functional tests evaluating mobility (MOST-VR) and visual search performance (VR-ViSA) to assess real-world vision-related abilities. | Diagnostic test | Adult Cohort |
Primary outcome
Best Corrected Visual Acuity (BCVA)
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.
Change in visual acuity measured using the ETDRS scale over the course of the study.
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.
Evaluation of photoreceptor function decline assessed by electroretinography (ERG).
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.
Evaluation of photoreceptor function decline assessed by full-field stimulus testing (FST).
7 secondary outcomes
Retinal Structure
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)
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)
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)
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)
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)
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)
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Isabelle Audo, Pr principal investigator
Centre National d'Ophtalmologie des Quinze-Vingts
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Usher Syndrome, run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 10 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Isabelle AUDO, Pr (+330140021430, isabelle.audo@inserm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Best Corrected Visual Acuity (BCVA) (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.). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Feb 2026.