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

HP:0000510: Rod-cone dystrophy
Genes 205
SRD5A3 PEX5 MYO6 CTSD PHYH SEMA4A LRAT PMM2 CDH23 PDZD7 MKS1 PEX6 MYO7A CEP290 CDHR1 PRPF6 RP1 MERTK IQCB1 IFT27 ROM1 PROM1 RDH11 KIF5A PEX2 CERKL RPGR PDE6A AIPL1 PDE6G PRPF4 ND4 TRNT1 NR2E3 ARL6 PEX10 CA4 ROM1 RP9 CC2D2A GATA3 ATP6 CEP290 PEX19 TOPORS BBS4 MAK TRNK REEP6 MFRP EXOSC2 NPHP1 IDH3B RGR BBS2 AHR PEX2 PRPF8 USH2A BBS9 ABHD12 HSPD1 PEX7 BBS10 USH2A SH2B1 PRPH2 SLC35A2 BBS1 ZNF408 SDCCAG8 SNRNP200 WHRN ATXN2 APOB IFT74 MKKS ND3 ACOX1 KIZ SEMA4A PDE6G RBP3 MDH2 AP3B2 RPL10 RPGR CRX TMEM67 TMEM67 PDE6B COQ2 HGSNAT ADGRV1 DHDDS RP2 PRPF3 TRNL1 PEX7 NDUFA9 TTC8 BBS12 OFD1 ARL6 CLN3 CCDC28B BBS7 NRL ZNF513 PEX6 CNGB1 ND1 CNGA1 PEX13 PEX11B ND6 FSCN2 CFAP410 BBS2 TULP1 PPP2R3C BBIP1 ND2 CLRN1 MVK CWC27 ND5 RHO NPHP4 OFD1 FDXR CRB1 PEX1 IFT140 IMPDH1 KLHL7 SAG BCS1L IFT172 CIB2 PRPF31 HMX1 MAPKAPK3 TTC8 KLHL7 CLRN1 ARL2BP ATP6 CNGA1 FLVCR1 PEX14 WARS2 C8ORF37 HGSNAT TELO2 PEX26 FLVCR1 TRAF3IP1 ARL3 ARL6 PMM2 EYS POGZ GGCX BBS5 C1QTNF5 PRPS1 RBP3 SLC7A14 ABCA4 PCDH15 PEX1 USH1C TULP1 PDZD7 PCARE ATP6 USH1G TRNV CLRN1 C8ORF37 PANK2 PRCD LRAT RPE65 CLDN19 PEX12 PCDH15 PEX16 DHX38 NEK2 USH1C PANK2 IMPG2 POGZ WDR19 FAM161A CEP290 WDR34 GUCA1B BEST1 PEX3 C8ORF37 PEX12 TRNW
Protein Mutations 3
P23H R135W T17M
SNP 0