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Report for Clinical Trial NCT02926092

Developed by Shray Alag, 2020.
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 35
CNNM4 ALMS1 TTLL5 POC1B RAB28 KCNV2 RIMS1 CDHR1 SEMA4A CRX ATXN7 NGLY1 PCYT1A AIPL1 RPGR CACNA2D4 PCYT1A PITPNM3 C8ORF37 SEMA4A PDE6C ALMS1 RAX2 LZTFL1 RPGR GUCA1A ABCA4 GUCY2D C8ORF37 PDE6H CACNA1F ADAM9 PROM1 RPGRIP1 SLC19A2
Pigmentary retinopathy
Genes 186
SNRNP200 PEX1 BBS2 BBS9 IMPDH1 SDHAF1 ERCC6 AMACR HADHA ND5 GUCY2D ZFYVE26 ABCA4 RNASEH1 NDUFA2 NDUFA4 WDPCP FLVCR1 IMPG2 TRNW RHO COA8 ECHS1 ND6 COA8 COX15 TRIM37 NR2E3 ND3 ARL13B ZNF513 ERCC3 TRNV BBS10 RP2 CA4 PRPH2 C8ORF37 RPE65 ND4 NDUFS3 BBS1 PEX5 HADHB CEP290 C8ORF37 PCARE CLRN1 SDHA TACO1 SURF1 NDUFAF6 NDUFS4 RHO BBS7 SLC19A3 POLR3A TRNN POMT2 TACO1 CRX PANK2 NGLY1 SURF1 RP9 RP1 GSS NDUFS7 PDE6A PNPLA6 NDUFA10 BCS1L NDUFV2 RLBP1 EYS SCN1A FASTKD2 TTC8 TULP1 RDH5 NDUFAF5 NR2E3 COX6B1 NPHP1 BBIP1 NDUFV1 ATXN7 FLVCR1 SDHA TRNS1 ND2 SDHA AIRE SDHAF1 MFRP TRNL1 LZTFL1 BEST1 RRM2B FKRP COX15 TTC8 CTNS COX8A POMT2 ND1 LIPT1 ACOX1 SAG ARL6 SDHD JAG1 CAV1 PANK2 PRRT2 NDUFA12 NDUFA13 ISCA1 LARGE1 BBS2 MKKS MSTO1 NDUFS2 IFT27 BBS5 COX14 AHI1 FSCN2 NDUFA9 CNGB1 TRIM32 ATP1A2 PNPLA6 HADH TULP1 SDCCAG8 MFSD8 HADHA SDHA MKS1 NDUFS1 PET100 TRNK RHO PEX2 SDHD HCCS PRPF31 ALMS1 COX20 SDHB SCO1 MTFMT POMT1 WFS1 COX7B PDHA1 VPS13B KIZ PRPH2 PET100 COX10 NDUFAF2 CTNS HADHB HADHA COX10 BBS4 CACNA1A NDUFB11 ROM1 PRCD NCAPG2 ERCC8 MSTO1 FAM161A FOXRED1 CRB1 ATP6 MMACHC USH2A BBS12 NDUFS8 IFT172 GMPPB PRDX1
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