NLP SNP

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

HP:0000510: Rod-cone dystrophy

Genes 259

RPGR DNAAF3 SH2B1 BBS2 TRNK NPHP4 DNAH1 DNAL1 DNAAF1 ABCA4 PEX3 PEX6 AIPL1 PRCD LRRC56 WARS2 FLVCR1 BBS1 ZNF513 ND2 PEX7 PMM2 RBP3 ND1 RSPH9 PRPF8 SPEF2 KIF3B DNAJB13 MAK MCIDAS PDE6G DNAH11 CEP290 ATP6 AP3B2 HSPD1 SEMA4A TULP1 SDCCAG8 ATXN2 ODAD2 PEX12 ABHD12 CFAP221 DNAI1 PPP2R3C LRAT PCDH15 CLRN1 CERKL CCDC103 SLC7A14 BBS12 OFD1 DNAAF5 DRC1 CTSD PDE6B NPHP1 PMM2 APOB C8ORF37 MERTK GUCA1B SPAG1 ZNF408 CNGA1 ADGRV1 BBS5 RP2 IQCB1 RP9 SAG FLVCR1 RP1 MKS1 ND4 DNAH5 ODAD3 MAPKAPK3 MDH2 OFD1 RGR IFT74 NDUFA9 PANK2 PEX16 RPGR ATP6 RPGR NEK2 NR2E3 TRAF3IP1 PDE6A STK36 EYS NRL C8ORF37 BCS1L TMEM67 CFAP300 POGZ CLN3 COQ2 LRRC6 RBP3 KIZ TULP1 ASPA CDH23 TMEM67 USH1C PEX12 FSCN2 TRNV CDHR1 WHRN MTTP CCNO CLRN1 HYDIN BBS10 PCARE SNRNP200 POGZ PDZD7 GGCX PEX6 TRNW PEX2 PEX10 SLC35A2 EXOSC2 RDH11 ODAD4 CCDC40 ARL2BP RSPH3 PCDH15 MVK RPL10 BBS2 KIF5A TOPORS CNGA1 ND5 NEK10 BBIP1 PEX26 C1QTNF5 C8ORF37 IDH3B PRPS1 CCDC28B WARS2 PEX1 CIB2 HMX1 DNAAF2 HGSNAT GATA3 IFT140 BEST1 SRD5A3 REEP6 ARL6 KLHL7 ARL6 DNAI2 DNAAF4 USH1C HK1 BBS4 ACBD5 CC2D2A PEX13 RHO RSPH1 TTC8 IFT172 MFRP ROM1 MYO7A ROM1 ND3 HGSNAT DNAH9 TELO2 USH2A TRNT1 BBS9 USH2A MKKS AHR PRPF6 FOXJ1 HSD17B10 PEX19 PEX5 ODAD1 PROM1 TTC8 IMPDH1 CRB1 DHX38 CRX CFAP298 IFT27 CEP290 NME8 IMPG2 CEP290 CCDC39 ARL6 CA4 DHDDS ND6 PEX14 CFAP410 WDR19 FAM161A DNAAF6 PRPF31 PEX11B TTC12 PRPF4 BBS7 LRAT USH1G PEX2 PDE6G MYO6 DYNC2I2 RSPH4A PRPH2 OFD1 ZMYND10 CCDC65 GAS2L2 PRPF3 PEX1 SEMA4A ARL3 ATP6 ARL6 CWC27 KLHL7 ACOX1 CNGB1 GAS8 PEX7 PHYH CLDN19 FDXR PDZD7 RPE65 TRNL1 PANK2

Protein Mutations 3

P23H R135W T17M

SNPMiner Trials by Shray Alag

SNPMiner Trials (Home Page)

Report for Mutation T17M

Developed by Shray Alag, 2020-2021.

SNP Clinical Trial Gene

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 Click for details

NCT02926092

Conditions

Interventions

MeSH:Retinitis Retinitis Pigmentosa

HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

Primary Outcomes

Secondary Outcomes

HPO Nodes

HP:0000510: Rod-cone dystrophy

Genes 259

Protein Mutations 3

SNP 0

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