Natural History Study of Usher Syndrome ( Light4Deaf )

NCT04665726 | Recruiting DMC

• 2 other identifiers: P16-052016-A01715-46
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 4

Brief 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.

Conditions

Usher Syndromes

Keywords

Usher syndrome,; Natural history study for retinal degenetation,; Deep-phenotyping,; Hearing loss,; Vestibular dysfunction

Outcome Measures

Primary Outcomes (1)

• 5-year natural history of Usher syndrome

  Phenotype/genotype correlation, structure function correlation and progression of structural and functional parameters

  From date of inclusion until the date of last documented progression , assessed up to 5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Any patient affected with Usher syndrome that has been molecularly confirmed

You may qualify if:

• 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

You may not qualify if:

• Patient or his/her legal representatives unable to understand the study and for whom informed consent cannot be obtained

Sponsors & Collaborators

• Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts: lead
• Assistance Publique - Hôpitaux de Paris: collaborator

Study Sites (4)

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Paris, 75012, France

RECRUITING

CHU Pitié Salpêtrière

Paris, 75013, France

RECRUITING

CHU Necker

Paris, 75015, France

RECRUITING

CHU Robert Debré

Paris, 75019, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

DNA, skin fibroblasts for future disease modelling

MeSH Terms

Conditions

Usher Syndromes; Hearing Loss

Condition Hierarchy (Ancestors)

Deaf-Blind Disorders; Deafness; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Hearing Loss, Sensorineural; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Blindness; Vision Disorders; Retinitis Pigmentosa; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Eye Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Isabelle AUDO, Pr

  Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Isabelle AUDO, Pr

CONTACT

0140021430; isabelle.audo@inserm.fr

Thilissa DIB

CONTACT

0140021455; tdib@15-20.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 7, 2020
• First Posted: December 14, 2020
• Study Start: June 8, 2017
• Primary Completion: June 8, 2022
• Study Completion (Estimated): June 8, 2027
• Last Updated: December 14, 2020

Record last verified: 2020-11

Locations

FR (4)