SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03859245

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Photobiomodulation & Ketogenic Diet for Treatment of Mid-periphery Retinal Disorders (Diabetic Retinopathy, Dry AMD, Hard Drusen Formation) for Alzheimer's Disease Prevention

The study will explore the impact of photobiomodulation (PBM), pulsating at frequencies of red (660nm) and near-infrared (810nm)(NIR), concurrent with a ketogenic dietary protocol (serum ketones @ .5 - 2.0 mmol/L) to mediate vascular features of diabetic retinopathy (DR), diabetic macular edema (DME), age-related macular degeneration (AMD), mid-peripheral drusens, visual acuity and retinal disorders. Red and near-infrared light via light-emitting diode (LED) treatment promotes retinal healing and improves visual acuity by augmenting cellular energy metabolism, enhancing mitochondrial function, increasing cytochrome C oxidase activity, stimulating antioxidant protective pathways and promoting cell survival. LED therapy directly benefits neurons in the retina, the lateral geniculate nucleus and the visual cortex; likewise, a ketogenic dietary protocol shows metabolic and neuro-modulatory benefits within the CNS, most notably as treatment for refractory epilepsy. Photobiomodulation has been approved as a non-significant risk (NSR) modality for the treatment of eye disorders.

NCT03859245 Diabetic Retinopathy (DR) Age-related Macular Degeneration (AMD) Mid-peripheral Drusen Formation Diabetic Macular Edema (DME)
MeSH: Alzheimer Disease Macular Degeneration Macular Edema Retinal Diseases Diabetic Retinopathy
HPO: Abnormal retinal morphology Alzheimer disease Cystoid macular edema Macular edema Retinopathy

2 Interventions

Name: Photobiomodulation

Description: Photobiomodulation therapy, via Joovv red light/infrared LED device, three days/week, 20 minutes per session for experimental and control groups.

Type: Behavioral

Experimental group Control group

Name: Ketogenic diet

Description: Experimental group will follow a clinically prescribed ketogenic diet.

Type: Behavioral

Experimental group


Primary Outcomes

Description: Improvement in number and severity of hemorrhages and hard and soft exudates as measured by the Daytona Plus (Panoramic Ophthalmoscope P200T)

Measure: Diabetic Retinopathy (DR) pathology

Time: 36 weeks

Description: Lower incidence of macular edema as measured by Optos Daytona Plus (Panoramic Ophthalmoscope P200T) and Optovue XR Avanti 3 OCT (Ocular Coherence Tomography) Imaging Systems

Measure: Diabetic Macular Edema (DME) pathology

Time: 36 weeks

Description: Reduction in size and number of drusen in early and intermediate stages of Dry AMD pathology as measured byOptos Daytona Plus (Panoramic Ophthalmoscope P200T) and Optovue XR Avanti 3 OCT (Ocular Coherence Tomography) Imaging Systems

Measure: Dry Age-related Macular Degeneration (AMD) pathology

Time: 36 weeks

Description: Reduction in size and/or density of drusen as measured by the Optos Daytona Plus (Panoramic Ophthalmoscope P200T)

Measure: Hard Drusen in the Mid-periphery pathology

Time: 36 weeks

Secondary Outcomes

Description: Assessment of changes in HgA1c (Hemoglobin A1c) over time. Ranges: <5.7%

Measure: HgA1c

Time: 36 weeks

Description: Assessment of changes in fasting insulin over time. Ranges: < 2.6-11.1 mU/L

Measure: Fasting Insulin

Time: 36 weeks

Description: Assessment of changes in fasting glucose over time. Ranges 74-100 mg/dL

Measure: Fasting Glucose

Time: 36 weeks

Description: Assessment of changes in HOMA-IR over time. Ranges <1.0

Measure: HOMA-IR

Time: 36 weeks

Description: Assessment of changes in triglycerides/HDL ratio over time. Ranges <2.0

Measure: Triglycerides/HDL ratio

Time: 36 weeks

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 P200T

Improvement in number and severity of hemorrhages and hard and soft exudates as measured by the Daytona Plus (Panoramic Ophthalmoscope P200T). --- P200T ---

Lower incidence of macular edema as measured by Optos Daytona Plus (Panoramic Ophthalmoscope P200T) and Optovue XR Avanti 3 OCT (Ocular Coherence Tomography) Imaging Systems. --- P200T ---

Reduction in size and number of drusen in early and intermediate stages of Dry AMD pathology as measured byOptos Daytona Plus (Panoramic Ophthalmoscope P200T) and Optovue XR Avanti 3 OCT (Ocular Coherence Tomography) Imaging Systems. --- P200T ---

Reduction in size and/or density of drusen as measured by the Optos Daytona Plus (Panoramic Ophthalmoscope P200T). --- P200T ---



HPO Nodes


HPO:
Abnormal retinal morphology
Genes 759
SLC24A5 HEXA HEXB TSPAN12 MKKS CFH TACO1 CDKN2A HFE UBA5 CDKN2B CDKN2D SDHAF1 TMEM67 PCYT1A LRAT TREX1 ASXL1 AARS ARL2BP ERCC1 ERCC2 MAK DGCR6 ERCC3 ABCA4 ERCC4 ERCC5 PDE6A ERCC6 HK1 PDE6C PDE6D ESS2 PDE6G MAN2B1 PDE6H CEL STUB1 HLA-A HLA-B MICOS13 PDE6B CENPF PDHA1 HLA-DPA1 ATOH7 CWC27 HLA-DPB1 ENPP1 AMACR ACO2 CDHR1 ACOX1 MAX RPS6KA3 GDF6 ACTA2 TMEM216 ACTB MC1R PEPD NAA10 PEX1 CHST6 PEX6 ACTG1 PEX7 DNAJC21 PEX10 PEX12 PEX13 DHDDS PEX14 TSC1 TSC2 PDZD7 RXYLT1 ADGRV1 NYX AGBL5 ACVRL1 HMX1 MDH2 RREB1 CHM CHN1 HNF4A ADAR RS1 LYST TTPA TUB LRIT3 KLRC4 PGK1 WARS2 MEFV TERF2IP GPR179 STN1 TULP1 BAP1 HIRA RNU4ATAC FZD4 TYR ARL6 TTC8 ERCC8 DACT1 TUBB4B PHYH RAB28 SAG FBN1 PANK2 FBN2 EFEMP1 SALL1 CLCN2 MGMT CEP78 KRT71 CLCNKB ATXN2 FKTN PIK3CA ATXN7 LIPH FAM161A YAP1 TPP1 CLN3 CLN5 SCN1A JAG1 RAB3GAP2 PGAP1 FDXR SCN3A UFD1 HACE1 SLC35A2 AGXT CLTC ARL13B POC1B PITX3 MITF SCN8A PEX16 FSCN2 AIPL1 AHR PRCD SCO1 GTF2H5 FGF3 CC2D2A RNF216 CCR1 AKT1 FGF12 FGFR1 TRPM1 C1QTNF5 FGFR2 DGCR8 IFT80 HSD11B2 ALDH1A3 MERTK FH ALDH3A2 TMCO1 TXN2 POMK ITM2B GMPPB PLOD1 USH2A CLRN1 CNGB1 CNGA1 ADAMTSL4 CNGA3 ALG12 SYCE1 SDHA SDHB SDHC FOXC1 SDHD COL1A1 FOXE3 PMM2 COL2A1 HSPD1 COL4A1 POMT2 VHL WHRN COL5A1 COL5A2 FLII NDUFB11 FLNB KLF11 PIGL BEST1 COL9A1 COL9A2 COL9A3 FBLN5 FOXRED1 COL11A1 CIB2 CCDC22 DEAF1 NDUFAF5 ANK1 COMT OFD1 ARV1 NMNAT1 CLIP2 CTC1 FKRP WFS1 PUF60 IFT74 NSD2 NELFA INPP5E RRM2B POLG SH3BP2 FLVCR1 B3GALNT2 GNPTAB PEX3 POT1 LZTFL1 CEP290 NDUFAF3 COX6B1 WRN TUBB SLC19A2 WT1 BBIP1 APC TMEM138 IKBKG COX7B SHH AIRE KIAA1549 COX8A COX10 POMGNT1 PORCN COX15 CP POU3F4 SPG11 APOB CNKSR2 DRAM2 ARMC9 CHD7 FASTKD2 DUX4 APOC2 POMT1 TMEM107 APOE IDH3B XRCC4 IDS GTF2IRD1 IDUA NSMCE2 PRPF8 FAS CTSA GDF3 TMEM127 SLC1A2 CREBBP YWHAG SLC7A14 COA8 ABCC6 CEP164 SH2B1 MMACHC PEX26 CYFIP2 NECAP1 TRAK1 EPG5 CASK MTFMT CRX WDR19 CRYAB IFNG TUBGCP6 ATF6 LIPT1 RAB3GAP1 ARL3 RAB18 CACNA2D4 C2CD3 NPHP3 PIEZO2 PPP3CA ATP6 GPIHBP1 ATP8 FAM111A SEC24C COX1 COX2 IGFBP7 COX3 PPT1 TENM3 ARVCF TMEM98 CYTB DYNC2LI1 TRIM32 ASAH1 ELMO2 PRF1 FRG1 HHAT VCAN NUS1 ND1 ND2 IQCB1 GNB5 ND3 ND4 CNGB3 ND4L ND5 ND6 CEP41 PITPNM3 MTTP B9D1 MPLKIP FLCN SLC13A5 APPL1 TRNE BLOC1S3 MIR204 SERPINC1 TRNF FTL NDUFAF6 SMPD1 MFSD8 TRNH IFT122 CTLA4 TRNK CTNNA1 TRNL1 RIMS1 SELENOI CTNS TRNN CTNNB1 TRNQ ATP1A2 TRNS1 TRNS2 RNASEH1 TRNV TRNW CTSD BBS12 ABHD12 G6PC SNRNP200 PLK4 TRIM44 SLC37A4 TRIM37 MVK RAI1 INVS SEMA3E PROS1 ZNF513 PRPS1 GABRB2 IL10 SPATA7 COX20 MYD88 SOX10 CERKL IL12A CYP1B1 PRPF31 IL12B ATP6V1A IFT140 ATP6V1E1 AHI1 NDUFS7 PRTN3 WWOX IMPDH1 GALNT3 IMPG1 ACD TRAF3IP1 MYO5A CHST14 MYO6 TMEM237 MYO7A ERAP1 MYOC PET100 INS KRT74 IFT172 KCNV2 KIZ ADAM9 ZNF423 TTLL5 SDCCAG8 KIF1B IQSEC2 DHX38 RNF113A KIAA0586 LAMA1 GATA3 PDX1 DAG1 GBA BBS1 BBS2 CDH23 BBS4 MPDZ PTPN22 GCDH PRPF6 GCK NDP POGZ NDUFA2 TNFRSF11A NDUFA4 COL25A1 OPN1MW TUBGCP4 PEX11B PTCH1 C12ORF57 NDUFA9 PTEN BCOR MFRP NDUFA10 GDF2 COQ2 NPHP4 BCS1L BBS9 NDUFB8 DPM1 NDUFS1 NDUFS2 NDUFS3 NDUFV1 NDUFS4 GGCX STAT3 MKS1 STAT4 NDUFS8 NDUFV2 TBC1D20 SYNGAP1 NOD2 SLC52A3 BLK ELOVL4 XYLT2 PROM1 BMP4 NEK1 NEK2 ZNF469 CCM2 ARL6IP6 NEU1 NEUROD1 KCNA2 CEP120 PNPLA6 STXBP1 NDUFA12 GLB1 ALMS1 BRAF KCNB1 SYNJ1 NF2 PMPCA TINF2 SDHAF2 SACS KLHL7 WASHC5 REEP6 USH1G ABCC8 SURF1 CABP4 AP5Z1 HPS4 SUMF1 KCNJ11 KCNJ13 MAPKAPK3 SCAPER PEX19 PCDH15 PEX2 PEX5 CLN6 ADAMTS18 GM2A CHRDL1 NHS MAFB GNA11 C4A CAPN5 KIF5A GNAQ SEMA4A GNAT1 GNAT2 SLC52A2 TMEM231 DNM1 GNB3 MAPRE2 KRT25 AP3D1 TRAPPC9 CFAP410 IL23R TBX1 SLC38A8 NOTCH3 KIF11 DNM2 CA4 IMPG2 GP1BB TBX22 NPHP1 CYP4V2 CACNA1A KRAS SLC12A6 RPGRIP1 DGCR2 LCA5 CACNA1F DPP6 IFT27 SCO2 HNF1A CYSLTR2 NR2E3 ADAMTSL1 B3GLCT ISCA1 RPGRIP1L B4GAT1 MLX WDR34 NRL RB1 SZT2 NDUFAF2 DYNC2H1 HCN1 NTRK2 SMCHD1 UBE3B PRSS56 RBP3 RBP4 HGSNAT SLC19A3 EXOSC3 OPN1LW BAZ1B GPR143 RDH5 RDH12 WDR60 PRPH2 ARHGEF18 CRPPA PCARE OAT SALL4 GRN OCA2 OCRL CAV1 ANO10 BBS5 GRIN2D RET TEAD1 PRRT2 RFC2 TEK USH1C CCNQ PRDM5 ECHS1 GRM6 TERC RAX2 TERT MCOLN1 CBS RGR TFAP2A EXOSC2 JMJD1C OPA1 WDPCP LETM1 MSTO1 EDN3 EDNRB TNFRSF11B POLR3A KRIT1 GSS RHO CRB1 GRK1 BBS10 EEF1A2 CEP55 SIX6 RLBP1 UNC119 NDUFA13 RMRP CNNM4 B9D2 COL18A1 MLXIPL LIMK1 GTF2E2 EYS TRNT1 OTX2 GTF2I SF3B1 GZF1 POMGNT2 NDUFAF1 LMNA GUCA1A GUCA1B IFT88 RDH11 TIMP3 PRPF4 PRPF3 IL12A-AS1 BBS7 TK2 RCBTB1 P3H2 SBDS LPAR6 ETHE1 ZNF408 SLC25A15 SAR1B GUCY2D RP1L1 AP3B2 HPS6 TLR4 PRDX1 CEP83 CHEK2 TTC21B LRP2 LRP5 UBAC2 ROM1 SLC45A2 ZFYVE26 HSD17B10 PAX2 RP9 LTBP2 RP1 ELN HADHA PAX4 RP2 CLDN19 RPGR HADHB PAX6 HADH C8ORF37 TOPORS HPS5 SLC24A1 HBB PDCD10 ENG CDH3 RPE65 CSPP1 HCCS TBL2 EP300 VPS13B SMAD4 ATP6V0A2 COX14 TCTN2 CDK4 MAF RD3 LARGE1
Alzheimer disease
Genes 6
PSEN2 CACNA1G APOE APP GATA1 PSEN1
Cystoid macular edema
Genes 14
MFRP HLA-A RLBP1 PRPF8 RDH5 POMGNT1 REEP6 PRPH2 DHDDS ARHGEF18 ARL3 RHO PDE6G NOD2
Macular edema
Genes 19
MFRP HLA-A RLBP1 PRPF8 NRL RDH5 POMGNT1 PRPF31 REEP6 PRPH2 DHDDS ARHGEF18 TREX1 NR2E3 ARL3 RP9 RHO PDE6G NOD2
Retinopathy
Genes 115
COL2A1 IL10 CDKN2A HFE KRAS CDKN2B CDKN2D IL12A IL12B SCO2 TREX1 ASXL1 KLF11 HNF1A ERCC2 COL11A1 ERCC3 ERCC4 ERCC5 PRTN3 CEL MLX ACD HLA-B MYO5A ERAP1 HLA-DPA1 HLA-DPB1 NSD2 NELFA INS ENPP1 GNPTAB POT1 NDUFAF3 MC1R TUBB PDX1 PEX7 PTPN22 GCK TMEM107 APOE PTCH1 IDUA FAS HNF4A TERT MCOLN1 NDUFB8 DPM1 KLRC4 ABCC6 NDUFS2 LETM1 MEFV TERF2IP MMACHC TNFRSF11B STAT3 MKS1 STAT4 TULP1 BAP1 NOD2 BLK PHYH NEU1 NEUROD1 PANK2 ATP6 NDUFAF1 MGMT BRAF TINF2 KLHL7 TRIM32 IL12A-AS1 ABCC8 SURF1 AP5Z1 KCNJ11 SAR1B TLR4 AGXT MITF CEP41 MTTP APPL1 TRNE CCR1 UBAC2 C4A FGFR1 MFSD8 CTLA4 HADHA TRNK PAX4 C1QTNF5 TRNL1 CTNS TMEM231 ALDH3A2 HBB TXN2 MAPRE2 PLOD1 CDH3 CSPP1 PLK4 IL23R KIF11 CDK4 PROS1