Usher SyndromesLight4DeafNCT04665726
Natural History Study of Usher Syndrome ( Light4Deaf )
An observational study of Usher Syndromes, run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts at 4 sites in France.
Trial summary
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Usher Syndromes
- How many people
- 400 participants
- Where
- 4 sitesFrance
- Study dates
- 8 Jun 2017to 8 Jun 2027
- How long will I take part?
- 5 Years
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Any patient affected with Usher syndrome that has been molecularly confirmed
Who may be able to join
- Patient with a molecular diagnosis of Usher syndrome type I, II or III or a clinical diagnosis of Usher syndrome type I, II or III which will then be confirmed by a molecular diagnosis
- Health insurance beneficiary
- Informed consent signed by the patient or their legal representatives
Who cannot join
- Patient or his/her legal representatives unable to understand the study and for whom informed consent cannot be obtained
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France4 sites, 4 recruiting
- Recruiting
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Paris, 75012
Isabelle AUDO, PU-PH, 01 40 02 14 30, Isabelle Audo <isabelle.audo@inserm.fr>
Isabelle Audo
- Recruiting
CHU Pitié Salpêtrière
Paris, 75013
Bahram Bodaghi, Bahram.bodaghi@aphp.fr
Stéphanie Lahouij, 0184827459, stephanie.lahouij@aphp.fr
- Recruiting
CHU Necker
Paris, 75015
Natalie Loundon, natalie.loundon@aphp.fr
Sandrine Marlin, sandrine.marlin@aphp.fr
- Recruiting
CHU Robert Debré
Paris, 75019
Sylvette Wiener Vacher, sylvette.wiener@gmail.com
Sylvette Wiener Vacher
About this study
Official title: Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.
Read the detailed description
Our cohort study aims at precisely documenting ophthalmic, auditory, vestibular, cogninitive alterations over time with phenotype/genotype correlation Ophthalmological assessment; Best corrected visual acuity, kynetic perimetry, microperimetry, colour contrast sensitivity, retinal multimodal imaging (fundus photograph, fundus autofluorescence, SD-OCT, OCTA, adaptive optics)
ENT assessment:
Tone and voice audiometry, Distortion product otoacoustic emissions Language assessment for children
Vestibular assessment:
Complete assessment of vestibular, canal and otolithic function Neuro-cognitive and visio spatial assessment Genetic: deep-genotyping using next generation sequencing
- Conditions
- Usher Syndromes
- Keywords
- Usher syndrome,, Natural history study for retinal degenetation,, Deep-phenotyping,, Hearing loss,, Vestibular dysfunction
- Medical subject headings
- Usher Syndromes, Hearing Loss
What is being measured
The primary outcome is the main question the study is designed to answer.
5-year natural history of Usher syndrome
Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters
Measured: From date of inclusion until the date of last documented progression , assessed up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Dec 2020
- Study start8 Jun 2017
- Primary completion8 Jun 2022 (estimated)
- Study completion8 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Usher SyndromesStudies 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
- 400 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
- Sponsor type
- University, hospital or other
- Collaborators
- Assistance Publique - Hôpitaux de Paris
- Responsible party
- Sponsor
- Investigators
- Isabelle AUDO, Pr, Principal investigator, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04665726
- Sponsor's protocol ID
- P16-05
- Other IDs
- 2016-A01715-46
- Acronym
- Light4Deaf
- Status last verified
- Nov 2020
- First submitted
- 7 Dec 2020
- Last updated
- 14 Dec 2020
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Dec 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
- ClinicalTrials.gov ID
- NCT04665726
- Acronym / sponsor ID
- Light4Deaf / P16-05
- Conditions
- Usher Syndromes
- Keywords
- Usher syndrome,, Natural history study for retinal degenetation,, Deep-phenotyping,, Hearing loss,, Vestibular dysfunction
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-VingtsUniversity, hospital or other
- Collaborators
- Assistance Publique - Hôpitaux de Paris
- Study start
- 8 Jun 2017 (actual)
- Primary completion
- 8 Jun 2022 (estimated)
- Study completion
- 8 Jun 2027 (estimated)
- First posted
- 14 Dec 2020 (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.
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the foreseen USH clinical trials. The clinical arm of the project aims at performing a deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, neurocognitive ability of subects with a molecular diagnosis of any Usher syndrome. Functional and structural parameters for retinal, auditory, and vestibular impairments are followed overtime to document the natural history of the disease and establish relevant clinical endpoint for disease progression that may be useful for future clinical trials.
Detailed description
Our cohort study aims at precisely documenting ophthalmic, auditory, vestibular, cogninitive alterations over time with phenotype/genotype correlation Ophthalmological assessment; Best corrected visual acuity, kynetic perimetry, microperimetry, colour contrast sensitivity, retinal multimodal imaging (fundus photograph, fundus autofluorescence, SD-OCT, OCTA, adaptive optics)
ENT assessment:
Tone and voice audiometry, Distortion product otoacoustic emissions Language assessment for children
Vestibular assessment:
Complete assessment of vestibular, canal and otolithic function Neuro-cognitive and visio spatial assessment Genetic: deep-genotyping using next generation sequencing
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Any patient affected with Usher syndrome that has been molecularly confirmed
Key inclusion criteria (3 listed)
- Patient with a molecular diagnosis of Usher syndrome type I, II or III or a clinical diagnosis of Usher syndrome type I, II or III which will then be confirmed by a molecular diagnosis
- Health insurance beneficiary
- Informed consent signed by the patient or their legal representatives
Key exclusion criteria (1 listed)
- Patient or his/her legal representatives unable to understand the study and for whom informed consent cannot be obtained
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
5-year natural history of Usher syndrome
Time frame: From date of inclusion until the date of last documented progression , assessed up to 5 years
Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters
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 14 Dec 2020.
Related trials for Usher Syndromes
Active, not recruitingObservational study
Rate of Progression in USH2A-related Retinal Degeneration
Usher Syndrome, Type 2A, Retinitis Pigmentosa 39
RecruitingPhase 1/2
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP)
RecruitingPhase 3
A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
Retinitis Pigmentosa (RP), Usher Syndrome
Not yet recruitingPhase 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
Active, not recruitingPhase 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
Retinitis Pigmentosa (RP), Usher Syndrome Type 2
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 Hospitalier National d'Ophtalmologie des Quinze-Vingts
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Usher Syndromes, run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts at 4 sites 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 3 inclusion and 1 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 14 Dec 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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 (0140021430, isabelle.audo@inserm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
5-year natural history of Usher syndrome (time frame: From date of inclusion until the date of last documented progression , assessed up to 5 years). 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 14 Dec 2020.