Natural history of Usher syndrome
Official title: Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
Run by Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts · NCT04665726 · Data updated 2026-11-12
This study is trying to understand how Usher syndrome affects vision, hearing, balance, and thinking over time in people who have been diagnosed with it.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 400 (estimated) |
| Sponsor | Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts Academic / other |
| Locations | 4 sites (Paris and 3 other locations) |
| Status | Recruiting |
| Started | June 8, 2017 |
| Main results expected | June 8, 2022 |
| Study ends | June 8, 2027 |
| Registry record updated | December 14, 2020 |
| Trial ID | NCT04665726 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include patients with a confirmed molecular diagnosis of Usher syndrome type I, II, or III.
✕Probably not a fit
Patients who do not have a molecular diagnosis of Usher syndrome or are unable to provide informed consent may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to document the natural history of Usher syndrome by performing deep-phenotyping of retinal degeneration, hearing loss, vestibular dysfunction, and neurocognitive abilities in patients with a molecular diagnosis of any Usher syndrome type. The study will utilize various assessments, including ophthalmic evaluations, auditory tests, vestibular assessments, and genetic deep-genotyping to correlate phenotype and genotype over time. The data collected will help establish clinical endpoints for disease progression, which may be valuable for future clinical trials targeting Usher syndrome.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of Usher syndrome, potentially informing future therapeutic interventions.
How similar studies have gone: Other studies focusing on the natural history and phenotyping of genetic syndromes have shown promise, suggesting that this approach could yield valuable insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Exclusion Criteria: • Patient or his/her legal representatives unable to understand the study and for whom informed consent cannot be obtained
Where it's running
-
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Paris, France Recruiting -
CHU Pitié Salpêtrière
Paris, France Recruiting -
CHU Necker
Paris, France Recruiting -
CHU Robert Debré
Paris, France Recruiting
Study contacts
- Principal investigator: Isabelle AUDO, Pr — Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
- Study coordinator: Isabelle AUDO, Pr
- Email: isabelle.audo@inserm.fr
- Phone: 0140021430
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.