SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02926092

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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
MeSH: Retinitis Retinitis Pigmentosa
HPO: Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

1 Interventions

Name: Observation

Description: Observation of progression of disease over time

Type: Diagnostic Test

Arm 1


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

Time Perspective: Prospective

Cohort


There are 3 SNPs

SNPs


1 P23H

The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation confirmed by genetic testing (mutations will include P23H, T17M, and R135W). --- P23H ---


2 R135W

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 ---


3 T17M

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 ---



HPO Nodes


HPO:
Cone/cone-rod dystrophy
Genes 29
SLC19A2 AIPL1 PITPNM3 CNNM4 RPGRIP1 PROM1 CACNA1F PCYT1A RAB28 CACNA2D4 RPGR RIMS1 ABCA4 PDE6C SEMA4A C8ORF37 PDE6H ALMS1 GUCA1A RAX2 ATXN7 KCNV2 ADAM9 CDHR1 TTLL5 GUCY2D LZTFL1 POC1B CRX
Pigmentary retinopathy
Genes 156
POMT2 MKKS NPHP1 TACO1 CACNA1A COX20 PRPF31 SDHAF1 NDUFB11 IFT27 BEST1 NR2E3 FOXRED1 AHI1 NDUFS7 ERCC3 ABCA4 ISCA1 PDE6A ERCC6 NDUFAF5 IMPDH1 NDUFAF2 PDHA1 FKRP WFS1 PET100 IFT172 AMACR KIZ ACOX1 RRM2B SDCCAG8 FLVCR1 LZTFL1 CEP290 COX6B1 SLC19A3 BBIP1 COX7B PEX1 AIRE BBS1 BBS2 COX8A RDH5 COX10 BBS4 PRPH2 COX15 PCARE FASTKD2 NDUFA2 CAV1 POMT1 NDUFA4 BBS5 PRRT2 NDUFA9 MFRP NDUFA10 ECHS1 BCS1L BBS9 COA8 NDUFS1 NDUFS2 WDPCP NDUFS3 MSTO1 NDUFV1 NDUFS4 MMACHC MKS1 TULP1 POLR3A NDUFS8 GSS NDUFV2 RHO CRB1 BBS10 MTFMT CRX RLBP1 ARL6 NDUFA13 TTC8 ERCC8 LIPT1 EYS SAG PANK2 PNPLA6 ATP6 NDUFA12 ALMS1 ATXN7 TRIM32 BBS7 FAM161A SURF1 SCN1A JAG1 ND1 GUCY2D ND2 ND3 ND4 ND5 PRDX1 ARL13B ND6 FSCN2 PEX2 PRCD SCO1 PEX5 ROM1 ZFYVE26 NDUFAF6 MFSD8 RP9 RP1 HADHA TRNK RP2 TRNL1 HADHB CTNS HADH TRNN C8ORF37 ATP1A2 TRNS1 RNASEH1 TRNV TRNW GMPPB USH2A BBS12 RPE65 CLRN1 CNGB1 HCCS SNRNP200 TRIM37 VPS13B SDHA SDHB SDHD CA4 COX14 IMPG2 ZNF513 LARGE1
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