SNPMiner Trials by Shray Alag


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Report for Mutation P200T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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) Behavioral: Photobiomodulation Behavioral: Ketogenic diet
MeSH: Alzheimer Disease Macular Degeneration Macular Edema Retinal Diseases Diabetic Retinopathy
HPO: Abnormal retinal morphology Alzheimer disease Cystoid macular edema Macular edema Retinopathy

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 ---

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


HPO Nodes


Cystoid macular edema
Genes 14
REEP6 POMGNT1 PRPH2 ARL3 ARHGEF18 RHO DHDDS NOD2 PDE6G MFRP PRPF8 RLBP1 HLA-A RDH5
Alzheimer disease
Genes 13
MPO HFE ABCA7 PSEN1 APOE APP A2M CACNA1G PSEN2 APOE PLAU GATA1 NOS3
Retinopathy
Genes 123
PHYH KCNJ11 HNF1A STAT3 MGMT CCR1 ALDH3A2 HFE CTNS ABCC8 INS NEU1 ERCC4 MCOLN1 PDX1 ABCC8 COL2A1 CDKN2B INS FGFR1 NDUFAF3 ERAP1 HADHA GNPTAB MYO5A HBB TMEM231 AP5Z1 MKS1 TNFRSF11B PLK4 BAP1 NEUROD1 MMACHC TRNE TMEM107 TXN2 NOD2 KRAS TXN2 GCK NELFA ENPP1 PLOD1 PAX4 NSD2 CDK4 LETM1 APOE PDX1 PANK2 NDUFB8 PEX7 ERCC3 TMEM107 TERF2IP CTLA4 NDUFAF1 CEP41 ASXL1 POT1 PTCH1 FAS KLF11 TERT TRNK TRNL1 SURF1 CTNS HLA-DPA1 BLK AGXT IL12B TUBB TLR4 PTPN22 CEL ERCC5 IDUA STAT4 DPM1 PROS1 C1QTNF5 HLA-B TINF2 KLHL7 COL11A1 SCO2 GCK ACD HNF4A NDUFS2 TULP1 MFSD8 HLA-DPB1 KIF11 KCNJ11 KLRC4 IL10 UBAC2 HLA-B MITF APPL1 C4A CSPP1 IL12A-AS1 IL12A TRIM32 IL23R ERCC2 AP5Z1 ATP6 ABCC6 MEFV CDKN2A MAPRE2 MC1R CDH3 TREX1 PRTN3 MTTP SAR1B MLX