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Report for Clinical Trial NCT02926092
Developed by Shray Alag, 2020.
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 ---