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 207
SEMA4A SNRNP200 PROM1 KLHL7 CTSD LRAT IFT172 PCDH15 NPHP1 MVK PDE6A MKKS BEST1 IMPG2 ARL6 IFT74 MKS1 CCDC28B PDE6G IFT27 USH2A BBS7 GGCX RBP3 KLHL7 ARL3 CA4 EYS PHYH TRNT1 MFRP PANK2 PEX26 COQ2 ROM1 WARS2 CDH23 IFT140 ARL2BP ND1 TELO2 PEX7 SAG CLRN1 PEX3 CEP290 RGR ACOX1 FAM161A PDE6B SLC7A14 MDH2 BBS12 NRL ABCA4 BBS2 PEX1 FSCN2 ATP6 PPP2R3C PEX12 HGSNAT PEX1 OFD1 PEX13 AIPL1 RP1 RPE65 KIF5A PRPF8 USH1C MAK PRPF4 CERKL ADGRV1 RBP3 IMPDH1 MAPKAPK3 ARL6 LRAT CEP290 ABHD12 TRAF3IP1 EXOSC2 PEX2 SRD5A3 DHDDS CNGB1 CLN3 PRCD PMM2 PRPS1 MERTK ND5 PEX16 PEX11B PEX6 PEX5 USH1C ZNF408 IQCB1 REEP6 TULP1 DHX38 CRX PEX12 RPGR C8ORF37 PANK2 RPGR NEK2 AHR PEX2 FDXR DYNC2I2 HMX1 WHRN ATXN2 POGZ PEX6 BBS5 PCDH15 TMEM67 SH2B1 PRPF3 IDH3B ATP6 ARL6 MYO7A TMEM67 CRB1 NR2E3 AP3B2 PEX19 CDHR1 BBS4 PRPF6 BBS2 SDCCAG8 USH1G BBIP1 CC2D2A PRPF31 CLRN1 HSPD1 C8ORF37 TTC8 ASPA POGZ BBS1 MYO6 NDUFA9 TOPORS ND4 WDR19 PDE6G PEX10 PDZD7 BCS1L TRNL1 PEX14 CFAP410 USH2A CIB2 ND3 C1QTNF5 TRNK ROM1 RDH11 TRNW RP9 PEX7 ND6 ND2 PCARE OFD1 TULP1 PRPH2 CEP290 GATA3 RPL10 BBS10 ZNF513 CNGA1 SLC35A2 BBS9 TRNV CWC27 NPHP4 RHO CLDN19 HGSNAT TTC8 KIZ ATP6 GUCA1B FLVCR1 ARL6 APOB FLVCR1 CNGA1 C8ORF37 PMM2 PDZD7 SEMA4A RP2 CLRN1
Protein Mutations 3
P23H R135W T17M
SNP 0