Rate of progression in USH2A related retinal degeneratio

Recruiting

Conditions: Retinal dystrophy
retinitis pigmentosa
10022396
10047060

Registration Number: NL-OMON46590

Lead Sponsor: Jaeb Center For Health Research

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 25

Inclusion Criteria

2.2.1 Study Participant Inclusion Criteria
1. Willing and able to complete the informed consent process
2. Ability to return for all study visits over 48 months if in the natural history study
3. Age * 8 years
4. At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report

Exclusion Criteria

2.2.2 Study Participant Exclusion Criteria
1. Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A
2. Expected to enter experimental treatment trial at any time during this study
3. History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine)

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Visual field sensitivity measured by static perimetry, best corrected visual<br /><br>acuity, mean retinal sensitivity as measured by fundus-guided microperimetry,<br /><br>ellipsoid zone area as measured by spectral-domain optical coherence<br /><br>tomography, retinal function using full-field electroretinography amplitudes<br /><br>and timing in response to rod- and cone-specific stimuli</p><br>

Secondary Outcome Measures