SNPMiner Trials by Shray Alag


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Report for Mutation R135W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Prospective, Multicenter, Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) With Misfolded Rod Opsin Mutations

The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.

NCT02926092 Retinitis Pigmentosa Diagnostic Test: Observation
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

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 ---

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


HPO Nodes