RecruitingNCT04665726

Natural History Study of Usher Syndrome ( Light4Deaf )

Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years


Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Enrollment

400 participants

Start Date

Jun 8, 2017

Study Type

OBSERVATIONAL

Conditions

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. 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.


Eligibility

Plain Language Summary

Simplified for easier understanding

This study is tracking the natural history of Usher syndrome — a rare genetic condition that causes both hearing loss and progressive vision loss (retinitis pigmentosa). People with Usher syndrome are born with hearing impairment or deafness, and then gradually lose their vision, often beginning in childhood or early adulthood. There are three main types (I, II, and III) with differing severities. Understanding how the disease progresses over time is essential for developing better treatments and for planning future clinical trials. Participants will undergo regular hearing and vision assessments, and genetic testing will be performed if a molecular diagnosis has not already been made. This is an observational study — no experimental treatment is involved. You may be eligible if: - You have a clinical or molecular diagnosis of Usher syndrome type I, II, or III - You or your legal representative can provide informed consent - You have health insurance coverage You may NOT be eligible if: - You or your legal representative are unable to understand the study or provide informed consent Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(4)

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Paris, France

CHU Pitié Salpêtrière

Paris, France

CHU Necker

Paris, France

CHU Robert Debré

Paris, France

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NCT04665726


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