SNPMiner Trials by Shray Alag


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Report for Mutation T17M

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 ---

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 202
SNRNP200 ATXN2 BBS2 ZNF408 ND5 SEMA4A PEX7 NPHP4 HMX1 IMPG2 TRNW WDR34 TMEM67 ND6 ZNF513 SLC7A14 TRNV REEP6 CA4 PEX12 TMEM67 USH1G PCARE OFD1 BBS9 BBS4 IFT172 COQ2 ADGRV1 RPGR C8ORF37 ARL3 RBP3 PMM2 RP1 PDE6G FDXR PEX6 PMM2 FLVCR1 ND2 RPE65 USH1C MAPKAPK3 LRAT CEP290 CDHR1 PDZD7 OFD1 BBS5 CEP290 C1QTNF5 PANK2 NDUFA9 PEX5 PRPF4 ATP6 SH2B1 FSCN2 CERKL GUCA1B PPP2R3C ABHD12 TULP1 CLN3 AIPL1 EXOSC2 PRPF31 IDH3B PDE6G MAK TRAF3IP1 ARL2BP AP3B2 PEX26 ATP6 HGSNAT PRPS1 CRB1 PRCD CNGA1 PEX13 IFT27 PEX12 BBS2 ARL6 USH1C CTSD MKS1 PEX3 PEX2 CWC27 HSPD1 MKKS IMPDH1 ABCA4 FLVCR1 DHDDS CLRN1 LRAT KLHL7 ND3 PRPF6 PEX6 CIB2 ARL6 DHX38 RP2 BCS1L ND4 C8ORF37 CLRN1 TTC8 USH2A RHO APOB PEX2 PROM1 PEX10 NPHP1 CEP290 RP9 PDE6A SDCCAG8 NRL CC2D2A EYS CFAP410 TULP1 RBP3 NR2E3 PEX11B BBS7 MDH2 CCDC28B PEX1 KLHL7 BBIP1 SRD5A3 GATA3 MFRP TRNL1 TTC8 WHRN CRX ND1 ACOX1 KIF5A SAG BBS10 NEK2 CLRN1 RPGR CLDN19 C8ORF37 SEMA4A PRPF3 CNGB1 PDE6B PEX14 BBS1 PEX1 MYO7A PCDH15 TRNK TOPORS PEX16 PEX7 AHR ROM1 WDR19 BBS12 PANK2 PCDH15 BEST1 IFT74 ARL6 IFT140 KIZ IQCB1 PHYH POGZ PRPH2 CDH23 PEX19 CNGA1 PDZD7 MERTK ROM1 WARS2 FAM161A GGCX MVK RGR TRNT1 ATP6 MYO6 USH2A POGZ PRPF8 SLC35A2 HGSNAT