SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report

Report for Mutation R135W

Developed by Shray Alag, 2019.
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

Rod-cone dystrophy
Genes 161
HSPD1 MKKS NPHP1 WHRN CERKL PRPF31 TMEM67 LRAT IFT27 IFT140 BEST1 ARL2BP NR2E3 MAK CIB2 ABCA4 PDE6A PDE6G IMPDH1 OFD1 TRAF3IP1 WDR34 NRL MYO6 PDE6B MYO7A CWC27 IFT74 IFT172 KIZ CDHR1 ACOX1 SDCCAG8 FLVCR1 PEX3 DHX38 CEP290 RBP3 HGSNAT GATA3 BBIP1 PEX1 BBS1 PEX6 BBS2 PEX7 PEX10 CDH23 BBS4 PEX12 PRPH2 PEX13 DHDDS PEX14 PCARE APOB PDZD7 PRPF6 POGZ BBS5 ADGRV1 IDH3B HMX1 PEX11B MDH2 NDUFA9 MFRP PRPF8 USH1C COQ2 NPHP4 BCS1L BBS9 RGR EXOSC2 SLC7A14 WARS2 SH2B1 GGCX PEX26 MKS1 TULP1 RHO CRB1 BBS10 CRX WDR19 ARL6 TTC8 PROM1 NEK2 PHYH EYS ARL3 TRNT1 SAG PANK2 ATP6 GUCA1B ATXN2 KLHL7 PRPF4 PRPF3 REEP6 BBS7 FAM161A USH1G CLN3 ZNF408 ND1 FDXR ND2 AP3B2 IQCB1 ND3 ND4 SLC35A2 MAPKAPK3 ND5 ND6 PEX19 PEX16 PCDH15 FSCN2 AIPL1 PEX2 PRCD PEX5 CC2D2A ROM1 RP9 RP1 KIF5A TRNK RP2 C1QTNF5 CLDN19 TRNL1 RPGR SEMA4A C8ORF37 MERTK TRNV TOPORS TRNW CTSD USH2A BBS12 RPE65 CLRN1 CNGB1 ABHD12 CNGA1 SNRNP200 CFAP410 MVK CA4 IMPG2 ZNF513 PMM2 PRPS1