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Report for Clinical Trial NCT02926092
Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene
The purpose of this study is to gain an understanding of how adRP progresses over time in
patients with misfolded rod opsin mutations.
Name: Observation
Description: Observation of progression of disease over time
Type: Diagnostic Test
Primary Outcomes
Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements Time: Baseline to 4 years
Secondary Outcomes
Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by EZ width Time: Baseline to 4 years
Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by visual fields (kinetic and static) Time: Baseline to 4 years
Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by dark-adapted rod visual fields Time: Baseline to 4 years
Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by electroretinography (ERG): dark- and light-adapted Time: Baseline to 4 years
Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by best corrected visual acuity (BCVA) Time: Baseline to 4 years
Measure: Vision-related function and quality of life as measured by 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) plus its additional items Time: Baseline to 4 years
Time Perspective: Prospective
Cohort
There are 3 SNPs
SNPs
1 P23H
The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation
confirmed by genetic testing (mutations will include P23H, T17M, and R135W). --- P23H ---
The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation
confirmed by genetic testing (mutations will include P23H, T17M, and R135W). --- P23H --- --- T17M --- --- R135W ---