A Multicentre, Prospective, Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects with Usher Syndrome type 1B (USH1B)
Completed
- Conditions
- Usher syndrome type 1B10015917
- Registration Number
- NL-OMON46147
- Lead Sponsor
- Oogziekenhuis Rotterdam
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 10
Inclusion Criteria
Informed consent
Diagnosed with USH1
Molecular diagnosis of USH1B due to MYO7A mutations (homozygotes or compound heterozygotes)
Age >= 8 years
Visual acuity >= 20/640 in at least one eye
Exclusion Criteria
Unable to communicate with suitable verbal/auditory and/or tactile sign language
Participation in clinical study with investigational drug in past 6 months
Pre-existing ocular conditions that would interfere with the interpretation of study
endpoints (e.g. glaucoma, corneal or significant lenticular opacities, cystoid macular oedema, macular hole) in both eyes
Complicating systemic diseases in which the disease itself, or the treatment for the disease,
can alter ocular function
Prior ocular surgery within 3 months
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>Visual acuity & visual field.</p><br>
- Secondary Outcome Measures
Name Time Method <p>IOP<br /><br>ERG<br /><br>OCT<br /><br>Fundusphotographs<br /><br>VFQ-25</p><br>