Informations générales (source: ClinicalTrials.gov)
Natural History Study of Usher Syndrome in a Cohort of Patients Followed Longitudinally for 5 Years
Observational [Patient Registry]
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (Voir sur ClinicalTrials)
juin 2017
juin 2027
14 septembre 2025
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Necker-Enfants Malades | Natalie Loundon | Contact (sur clinicalTrials) | |||
| CHNO DES QUINZE-VINGTS PARIS | Isabelle AUDO, PU-PH | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| CHU Pitié Salpêtrière - 75013 - Paris - France | Bahram Bodaghi | Contact (sur clinicalTrials) | |||
| CHU Robert Debré - 75019 - Paris - France | Sylvette Wiener Vacher | Contact (sur clinicalTrials) | |||
Critères
Tous
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
- 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
• Patient or his/her legal representatives unable to understand the study and for whom
informed consent cannot be obtained