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 478
PDGFRB HEPACAM DNAJC13 GLB1 HTT CHD2 SYNJ1 CLN6 FMR1 PSAP TOMM40 GBA SLC13A5 COX1 DAOA XPA TREM2 NOTCH3 PLAU ATP1A3 CNKSR2 AARS2 PINK1 SLC1A2 VPS13C TBP MAPT UCHL1 CHD2 PSEN1 TYMP SLC13A5 TRNC MAPT SCN8A EPM2A C19ORF12 SYNJ1 SNCA CP CHMP2B WWOX TRNK TRNL1 ND4 PDGFB TRAK1 APOL2 NR4A2 ERCC8 VPS13A LRRK2 HSD17B10 GIGYF2 WDR45 PRNP TRNQ DNMT1 SDHB TTPA GABRA2 SCO2 NDUFS2 GBA KMT2A PSEN2 PDGFRB SPG11 TLR3 TRPM7 SNCA GCH1 MAPT CACNA1B UBAP1 COX3 GRN FTL FMR1 TUBA4A HGSNAT ERCC2 ALDH18A1 VPS13C MAPT SQSTM1 PLP1 CUX2 FA2H APTX MAPT GBA ALDH18A1 ARSA TBP ROGDI MAPT GALC KCTD7 WFS1 CISD2 TRNQ APOE GBA MFSD8 PRNP PSEN2 JAM2 TBP HFE DCAF17 CLN3 QDPR NHLRC1 EEF1A2 TRNS1 KCNB1 UBQLN2 GNAS CHCHD10 ARSA TRNH SDHD HTRA1 ZFYVE26 HNRNPA2B1 NPC1 CTC1 C9ORF72 SLC2A3 CACNA1A MAPT TARDBP DARS2 CP DNMT1 RNF216 PSAP PLA2G6 SDHAF1 MAPT GABRG2 CLN5 XPR1 SGPL1 MYORG HNF1A SNCAIP LRRK2 PRKCG GRN TRNW ATP7B CLTC PRDM8 SUMF1 ADA2 PDGFRB IRF6 COMT ATXN2 GALC CHMP2B HTR2A NECAP1 SZT2 CLN6 DNMT1 AARS1 UBA5 ATP13A2 TRNS2 DMPK UCP2 NOS3 PSAP RBM28 A2M EPM2A YWHAG CSTB DNAJC5 COX1 CHMP2B WFS1 ATN1 ND5 PRKAR1A PARS2 JPH3 RBM28 TIMM8A RAB39B IDUA ND6 RRM2B MAPT GALC PTS KCNA2 LMNB1 COL18A1 APP ATXN7 PRNP FBXO7 ERCC4 PSEN1 NDP GRN PRDX1 ERCC6 SNCA FA2H NOTCH3 COX2 FGF12 NDUFAF3 TREM2 DHDDS RAB27A TIMM8A FTL GDAP2 PAH CTNS MAPT MECP2 ATP6 TMEM106B SNORD118 EIF4G1 AP5Z1 KCNA2 NBN HCN1 DNM1L ND6 RTN4R ADA2 ASAH1 TRNL1 SYNGAP1 CST3 ND1 OPA1 C9ORF72 HNRNPA2B1 DNM1 GBA DRD3 CTSD CHCHD10 HNRNPA1 TREX1 SCN3A ATXN10 NDUFB8 ATXN3 PSEN1 ADH1C GBA2 CHMP2B CHI3L1 PDGFB ACTL6B POLG CSF1R UBTF TRNF SURF1 ATP6V1A SYNJ1 ATXN8OS SNCA MAPT FUS PLA2G6 RRM2B MATR3 SNCA PANK2 ARSA PPP2R2B KCNC1 HTT PDE10A ND1 NRAS SPG11 RRM2B GALC BSCL2 SCN1A MTHFR MPO HIBCH SERPINI1 CPLX1 JPH3 NTRK2 PODXL ITM2B COX3 SPAST ABCD1 DISC2 C9ORF72 PRNP CLN8 COASY CSTB NPC2 LRRK2 SQSTM1 GBA CYTB NAGLU TRNV PPT1 RNF216 KCNJ11 HTRA1 RNASEH1 COL4A1 CYP27A1 TWNK ABCC8 PLEKHG4 APP AP2M1 MMACHC MBTPS2 TMEM106B ATP13A2 SPG21 ATN1 MFN2 SYN2 HEXA ATP6V0A2 PARK7 WDR45 DGUOK HTRA2 NOTCH2NLC TRNS2 CYFIP2 TBC1D24 TREM2 PRDM8 VPS35 HTT SYNJ1 TRNK AP3B2 GRN APOL4 PNPLA6 STXBP1 VCP TYROBP NUS1 TREM2 PSEN1 TYROBP TBK1 TREM2 PANK2 PINK1 MATR3 ATP6V1A SNCA BSCL2 GRN GRIN2D CSF1R TTR DNM1 COX2 MAPT TRNF SDHA VCP SORL1 ATXN2 TARDBP SCARB2 SLC6A1 APP GM2A TBK1 PRICKLE1 ATP13A2 APOE ROGDI POLG TK2 PSEN1 NDUFA6 PSEN1 APP PRKAR1B VCP ATP13A2 PRNP ITM2B ATP6 NHLRC1 SQSTM1 TINF2 CLN8 TBK1 ARV1 SMC1A ASAH1 ACTB HNF4A GBA APP HEXB CTSF CERS1 SQSTM1 TRNW TUBB4A APP PRNP C9ORF72 C19ORF12 CNTNAP2 SPG21 PRKN TIMMDC1 ATXN2 DCTN1 ND5 ABCA7 PPP3CA SNCB GABRB2 CUBN PRNP HLA-DQB1 SLC20A2 C9ORF72 TREX1 DCTN1 PPP2R2B VCP TMEM106B FA2H CFAP43 PSEN1 VCP TRNE GABRB3 GBA2 APP SCN1A TRNS1 ATXN7 ATP6V1E1 PDE11A SUMF1 PSAP GABRA5 VCP CHMP2B MAPT MAPK10 PLA2G6 MCOLN1 GBE1 ATP1A2 PRNP GLUD2 DNAJC6
Protein Mutations 3
K56M V158M V66M