Retinal dystrophy retinitis pigmentosa
Conditions
Interventions
None listed
Sponsors
Jaeb Center For Health Research
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
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
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)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Visual field sensitivity measured by static perimetry, best corrected visual acuity, mean retinal sensitivity as measured by fundus-guided microperimetry, ellipsoid zone area as measured by spectral-domain optical coherence tomography, retinal function using full-field electroretinography amplitudes and timing in response to rod- and cone-specific stimuli | — |
Secondary
| Measure | Time frame |
|---|---|
| Auditory function, patient reported outcomes | — |
Countries
Netherlands
Outcome results
None listed