NCT03814499

Natural History Study in Subjects With Usher Syndrome

A Multicentre Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Usher Syndrome Type 1B (USH1B)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 56 (actual)
• Sponsor: Fondazione Telethon · Academic / Other
• Sex: All
• Age: 8 Years
• Healthy volunteers: Not accepted

Summary

Natural History Study in Subjects With Usher Syndrome ((USH1B) is a multi-centre, longitudinal, observational study designed to evaluate disease progression in subjects with USH1B by several vision-related assessments.

Detailed description

Natural History Study in Subjects With Usher Syndrome (USH1B) is being conducted to understand the progression of disease in USH1B patients as measured by visual acuity and visual field testing and a number of other vision-related assessments. Disease progression will be evaluated as change over time in these measures and associations between the endpoints will be examined. The primary objective of this study is to evaluate the natural progression of disease over time in USHIB patients using visual field testing and best corrected visual acuity. The secondary objectives of this study are to evaluate the progression of disease over time in USHIB patients through additional assessments: * Microperimetry (only in selected centres) * Fundus autofluorescence (FAF) * Optical Coherence Tomography (OCT) * Full-field Electroretinogram (ERG), * Multifocal Electroretinogram, * Vision-related function and quality of life, as measured by the 25-Item National Eye Institute Visual Function Questionnaire (NEI VFQ-25)

Conditions

• Usher Syndrome, Type 1B

Timeline

• Start date: 2018-06-01
• Primary completion: 2020-12-30
• Completion: 2022-12-30
• First posted: 2019-01-24
• Last updated: 2024-12-09
• Results posted: 2024-12-09

Locations

3 sites across 3 countries: Italy, Netherlands, Spain