SNPMiner Trials by Shray Alag


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Report for SNP rs10524523

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Double Blind, Randomized, Placebo Controlled, Parallel Group Study to Simultaneously Qualify a Biomarker Algorithm for Prognosis of Risk of Developing Mild Cognitive Impairment Due to Alzheimer's Disease (MCI Due to AD) and to Test the Safety and Efficacy of Pioglitazone (AD-4833 SR 0.8 mg QD) to Delay the Onset of MCI Due to AD in Cognitively Normal Subjects

The purpose of this study is to qualify the biomarker risk algorithm for prognosis of the risk of developing Mild Cognitive Impairment due to Alzheimer's Disease (MCI-AD), and also to evaluate the efficacy of pioglitazone compared with placebo to delay the onset of MCI-AD in cognitively-normal participants who are at high-risk for developing MCI within 5 years.

NCT01931566 Mild Cognitive Impairment Due to Alzheimer's Disease Drug: Pioglitazone Drug: Pioglitazone placebo
MeSH:Alzheimer Disease Cognitive Dysfunction
HPO:Alzheimer disease Cognitive impairment Mental deterioration

18. Participant's Translocase of the Outer Mitochondrial Membrane 40 homolog (TOMM40) rs10524523 or apolipoprotein E (APOE) genotypes or APOE phenotype are known by the participant or the study staff participating in this study.

Primary Outcomes

Description: The event definition for MCI-AD was the time in days from the randomization date to the date of the first of two consecutive scheduled visits at which a participant was assessed with a diagnosis of MCI due to AD confirmed by adjudication committee. Here, the time to event was reported as the restricted mean survival time. The restricted mean survival time was defined as the area under the curve of the survival function up to the largest event time.

Measure: Time to Diagnosis of Mild Cognitive Impairment Due to Alzheimer's Disease (MCI-AD) for Placebo-treated, High-risk, Non-Hispanic/Latino Caucasian Participants Versus Placebo-treated, Low-risk, Non-Hispanic/Latino Caucasian Participants

Time: Baseline to the end of study (approximately up to 5 years)

Description: The event definition for MCI-AD was the time in days from the randomization date to the date of the first of two consecutive scheduled visits at which a participant was assessed with a diagnosis of MCI due to AD confirmed by adjudication committee. Here, the time to event was reported as the restricted mean survival time. The restricted mean survival time was defined as the area under the curve of the survival function up to the largest event time.

Measure: Time to Diagnosis of MCI Due to AD for Pioglitazone-treated, High-risk, Non-Hispanic/Latino Caucasian Participants Versus Placebo-treated, High-risk, Non-Hispanic/Latino, Caucasian Participants

Time: Baseline to the end of study (approximately up to 5 years)

Secondary Outcomes

Description: Composite scores derived from the test battery. Domains of Episodic Memory [California Verbal Learning Test-2nd Edition (CVLT-II), Brief Visuospatial Memory Test-Revised (BVMT-R)]; Executive Function [Trail Making Test (TMT) (Part B), Wechsler Adult Intelligence Scale (WAIS)-III Digit Span Test-backwards span]; Language [Multilingual Naming Test (MiNT), Semantic Fluency (animals), Lexical/phonemic fluency (F, A, and S in English; D, S, and F in German)]; and Attention [WAIS-III Digit Span Test-forward span, TMT (Part A)] used for composite score. 12 measures were derived from 8 neuropsychological tests. CVLT-II test involved 2 primary measures (short, long delay recall); BVMT-R had 2 measures (copy and recall); Digit Span and Trail both had 2 measures (forward and backward span and Parts A and B). There was 1 total score for each test: CDT, MINT, semantic and lexical fluency. Total score ranged from -1.222 to 1.707 at baseline, a higher composite score indicated better cognition.

Measure: Change From Baseline for Cognitive Decline on Composite Score on the Cognitive Test Battery for Pioglitazone-treated Participants Versus Placebo-treated Participants in the High-risk Stratum

Time: Baseline and Month 48

Description: The ADCS ADL-PI is a functional measure that was specifically designed for standardized administration over long duration clinical studies to prevent AD. The ADCS ADL-PI is a 20-item instrument that included 15 ADL questions, which were scored as 1 (with a lot of difficulty), 2 (with some difficulty), or 3 (as well as usually, with no difficulty), plus 5 vision, hearing, and mobility questions, which were scored from 0 (no) to 1 (yes). ADL Total ranged from 0 to 45, and lower scores indicated greater disability.

Measure: Change From Baseline in Instrumental Activities of Daily Living (Alzheimer's Disease Cooperative Study Activities of Daily Living - Prevention Instrument [ADCS ADL-PI]) Between Pioglitazone-treated and Placebo-treated Groups of the High-risk Stratum

Time: Baseline and Month 48


HPO Nodes


HP:0001268: Mental deterioration
Genes 461
SMC1A FUS PDE11A PLEKHG4 CTC1 SPG11 FA2H PLA2G6 SYNJ1 C9ORF72 HTT UBAP1 ND5 HEXB PTS MAPT TRNS2 PDGFB APOL2 TWNK GBA FGF12 JPH3 KCNB1 NOTCH3 APOE PAH MAPK10 CNTNAP2 APP COL4A1 ABCC8 MCOLN1 RAB27A CLN6 ERCC6 COX3 GRN APOE ADH1C BSCL2 FMR1 TRNS1 UCP2 PRNP VPS13C GLUD2 TBK1 GBA KCNA2 DISC2 CSTB WFS1 ATP6 HSD17B10 MAPT FTL VCP CSF1R C9ORF72 CYTB NDUFA6 PDGFRB PRKCG ZFYVE26 CSTB HTR2A JPH3 PSEN2 GDAP2 MAPT EPM2A C9ORF72 APP PODXL LRRK2 C19ORF12 HNRNPA2B1 CACNA1A SERPINI1 CP CFAP43 PRNP HLA-DQB1 SNCA ND1 SGPL1 DNM1 CPLX1 VPS35 NDUFB8 C9ORF72 ATXN3 SNCA GABRA5 CHMP2B TIMM8A ATN1 LRRK2 PARK7 DNMT1 TTR ASAH1 SCN1A GIGYF2 APP CHD2 ATP13A2 COX2 UBQLN2 HNRNPA1 ATN1 VPS13A CHMP2B TYROBP SLC2A3 ACTB SQSTM1 CST3 HCN1 ERCC2 SDHB ATP13A2 CHCHD10 SPG21 GRN MAPT GCH1 PSEN1 PNPLA6 SPG21 IDUA TRNL1 SYN2 ITM2B GBA C9ORF72 CHI3L1 MAPT PSAP GBA SZT2 CLN8 ATXN2 TREM2 TREM2 MMACHC NPC1 CTNS PDGFRB PLAU AP2M1 DNM1 TRPM7 HFE SNORD118 SNCA NDUFS2 TBK1 NDP SQSTM1 DAOA SLC6A1 YWHAG SUMF1 TREX1 GLB1 FTL DNAJC6 TRNQ UBA5 CNKSR2 HGSNAT UBTF NUS1 MFN2 PSAP ALDH18A1 COX1 TMEM106B ARV1 ASAH1 TARDBP TLR3 SYNJ1 MAPT STXBP1 EIF4G1 HNRNPA2B1 HNF1A MAPT VCP PSEN1 PANK2 ATP13A2 CYFIP2 AARS1 PSEN1 HNF4A PRDM8 COMT ND6 PSEN1 GRN NOTCH3 ALDH18A1 ATP7B DNMT1 GRN ATP13A2 PPT1 RAB39B CYP27A1 TRNC CUX2 GABRA2 SDHD PRDM8 ACTL6B PSEN2 APOL4 MBTPS2 CTSD TRAK1 HEXA CLTC ATXN10 SNCAIP ATXN7 RTN4R POLG SUMF1 SQSTM1 TMEM106B GM2A PSEN1 NDUFAF3 MECP2 PRKN TK2 CLN8 DNMT1 POLG PRDX1 CISD2 GRN TREM2 LMNB1 NRAS SNCA SCO2 PSAP CHMP2B APP TUBA4A SLC1A2 RBM28 UCHL1 ATXN2 TBP TRNF MAPT GABRB3 PPP2R2B PRNP XPR1 CHD2 MAPT NOS3 COL18A1 DNM1L HEPACAM XPA TYROBP SNCA SLC20A2 CSF1R PRNP TRNW PRNP SDHA WFS1 SNCB SCN9A RRM2B ARSA SURF1 MAPT C19ORF12 CHMP2B APP RBM28 SNCA ADA2 GABRB2 AP5Z1 TBC1D24 ATP1A2 TREM2 DGUOK ATXN2 MAPT ERCC8 HTRA2 QDPR DCTN1 TMEM106B HTRA1 GBA2 NBN PLA2G6 PLA2G6 DARS2 CP APP AARS2 VCP WDR45 MATR3 HTRA1 MAPT MATR3 HTT PDE10A PANK2 TUBB4A GBA2 PRICKLE1 NR4A2 GALC ADA2 WDR45 NHLRC1 ST3GAL5 RNASEH1 SQSTM1 VCP ERCC4 KCNA2 DNAJC13 TRNK AMN EEF1A2 TIMMDC1 HTT TOMM40 PRNP ATP6V1A CLN3 KCNJ11 CACNA1B SDHAF1 PRNP GRIN2D ROGDI FBXO7 APP PLP1 TRNV TINF2 NPC2 BSCL2 ABCD1 ATP6V1A GBA FA2H COASY CERS1 APTX TREM2 RNF216 CLN6 VPS13C GBA CLN5 TBK1 PPP3CA MYORG PDGFB PRKAR1A GBE1 DNAJC5 MAPT TTPA TRNE GBA RRM2B EPM2A FA2H SYNGAP1 TYMP PPP2R2B TREX1 MPO KMT2A OPA1 MFSD8 ATXN7 PINK1 PSEN1 CFAP43 LRRK2 CTSF AP3B2 DHDDS ARSA NAGLU SPAST RNF216 FMR1 ITM2B IRF6 TIMM8A TBP HIBCH RRM2B KCNC1 GABRG2 ATXN8OS PSEN1 SLC13A5 WWOX SCN8A PINK1 PRNP SLC13A5 ATP6 PDGFRB SCARB2 SORL1 DRD3 CUBN ATP6V0A2 GNAS PARS2 ROGDI NOTCH2NLC NTRK2 KCTD7 DCAF17 SPG11 SCN3A ABCA7 VCP VCP ARSA SYNJ1 NHLRC1 SCN1A CHCHD10 A2M PRKAR1B TBP NECAP1 ATP1A3 MTHFR CHMP2B ATP6V1E1 TRNK DCTN1 TARDBP
Protein Mutations 3
K56M V158M V66M