SNPMiner Trials by Shray Alag


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Report for Mutation V106M

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Phase 2 Dose-escalating, P-C, D-B, Parallel Group Study in HIV Treatment-experienced Patients to Evaluate the Safety, Tolerability and Efficacy of PA103001-04 Administered as Functional Monotherapy for 14 Days *(PART B)

The purpose of this study is to evaluate antiretroviral activity of up to five different oral doses administered for two weeks of bevirimat versus placebo in HIV treatment experienced patients, who have documented genotypic resistance to at least one major mutation from the IAS-USA list (2007)of resistance mutations for NRTIs, NNRTIs, or PIs. Patients will also be monitored for side effects, and the pharmacokinetics of bevirimat will be determined.

NCT00511368 HIV Infections Drug: matching placebo Drug: Bevirimat
MeSH:HIV Infections

- Have documented evidence of genotypic resistance in their medical records (at screening) or have resistance at screening by genotype to any major mutation from the IAS-USA list of resistance drug mutations, defined as: NRTI resistance: M41L, K65R, D67N, K70R, K70E, L74V, Y115F, M184V, M184V/I, L210W, T215Y/F, K219Q/E; NNRTI resistance: L100I, K103N, V106M, V106A/M, V108I, Y181C, Y181C/I, Y188L, Y188C/L/H, G190S/A, G190A, P225H; Major PI resistance: D30N, V32I, L33F, M46I/L, I47V/A, G48V, I50L, I50V, I54M/L, L76V, V82A/F/T, V82A/F/T/S, V82L/T, I84V, N88S, L90M - Be receiving an antiretroviral therapy regimen containing at least 3 drugs (regimens containing ritonavir must not exceed a total daily dose of 400 mg) which has been unchanged for at least 8 weeks prior to initial screening. --- M41L --- --- K65R --- --- D67N --- --- K70R --- --- K70E --- --- L74V --- --- Y115F --- --- M184V --- --- M184V --- --- L210W --- --- T215Y --- --- K219Q --- --- L100I --- --- K103N --- --- V106M ---

Primary Outcomes

Measure: HIV-1 RNA change from baseline over the first 14 days of study

Time: 14 days

Secondary Outcomes

Measure: safety and tolerability; pharmacokinetics

Time: 14 days

2 Explorations Into the Mechanism for INSTI-associated Weight Gain: a Focus on Energy Balance

Weight gain following antiretroviral therapy (ART) initiation occurs with all modern regimens. Recent real-world reports suggest that integrase strand transfer inhibitor (INSTI)-based ART may be associated with excess weight gain compared to other regimens. Weight gain appears to occur regardless of baseline weight, and is most pronounced among women and minorities, often those at highest risk of obesity-associated comorbidities. INSTI- and TAF-based regimens are now preferred regimens for most persons according to the Department of Health and Human Services ART-Treatment Guidelines. As a result, there is an urgent need to understand the underlying mechanisms for this weight gain. This study aims to understand the changes in energy balance that occur with changes in ART. Participants with HIV who have experienced >10% weight gain on INSTI (bictegravir or dolutegravir-based therapy) will be switched to doravirine for 12 weeks, and then back to their prior INSTI regimen, allowing for assessment of changes in metabolic parameters with drug withdrawal and reintroduction (with no change to NRTI-backbone). Twenty-four hour energy balance will be measured on both regimens during a 24-hour stay using a whole room indirect calorimetry, with a standardized diet. Ultimately, the investigator's goal is to understand the mechanisms of weight gain so that future interventions can most effectively mitigate ART-associated weight changes.

NCT04495348 HIV-1-infection Weight Gain Drug: Doravirine
MeSH:Body Weight Weight Gain
HPO:Increased body weight

- Severe claustrophobia that would limit ability of participant to remain in the whole room calorimeter - Known resistance to any component of the study drugs, including detection of any of the following resistance mutations on prior HIV genotype test (genotype testing not required if not available): Doravirine resistance: V106A, V106I, V106T, V106M, Y188C, Y188H, Y188L, G190E, P225H, F227C, F227L, F227R, M230L, L234I Resistance to NRTIs: K65R, K65E, K65N, T69S (insertion complex), K70E, L74V, Y115F, Q151M, M184I, M184V. --- V106A --- --- V106I --- --- V106T --- --- V106M ---

Primary Outcomes

Description: Change in total energy expenditure (kcal/day)

Measure: Change in energy balance

Time: 24 weeks


HPO Nodes


HP:0004324: Increased body weight
Genes 529
SHOX HACE1 THOC2 LIMK1 FMR1 SOX3 PHF6 CLCN4 IFT172 TNFSF4 PDX1 KCNAB2 AGRP GNAS ADCY3 HLA-DRB1 AFF4 REEP6 PRPF6 KLF11 KIAA1549 ARL6 DNM2 ELN MKS1 PWAR1 IFT27 SDC3 LIPE SYNE2 RAB39B FGF8 ARHGEF6 RDH12 ZNF408 BRAF SH2B1 BPTF HLA-DQB1 ANOS1 LMNA TRIM32 ARX AKT1 KIF7 TRIP12 FIBP SLC7A7 IL1RAPL1 SHANK3 INS EGF CFI RAI1 SYNE1 GNAS ATP6AP2 MTOR XRCC4 SLC7A14 GNAS HDAC8 BBS2 HSD11B1 MC4R AGBL5 ANK3 KMT2D ACADVL BBS4 MEGF8 CYP7A1 RAD21 PIGN ARVCF BEST1 RPS6KA3 ZNF365 ADRB3 CRX MID2 ATRX NDN UCP3 IQSEC2 SKI RBP3 CNGB1 RAB23 ZNF513 SLC25A4 FLRT3 FIBP KISS1R CCDC141 IFT140 TSPAN7 CCDC141 RAI1 ARMC5 TRAF3IP1 TP53 LZTFL1 SUFU OFD1 MAGEL2 SMC1A AKT2 GNAS ARL6 GTF2IRD1 UFD1 TRIM32 CDHR1 NF2 MEGF8 SNORD115-1 WT1 HACE1 SH2B1 CNGA1 DHDDS RFC2 PSMD12 SMO KIZ HNF1A NTRK2 BBS10 DCC PRPF8 FOXP1 EP300 SOX10 POU3F4 DIS3L2 BAP1 TMEM43 NEK2 DEAF1 GNAS-AS1 BBS9 SIN3A SNRPN MAK FGFR1 PHF6 CLIP2 BBS2 COMT BBS2 HESX1 MTOR HESX1 GNAS PRKACA JMJD1C TCF20 MCM3AP NEUROD1 LZTFL1 ARL6 CFH ABCA4 C8ORF37 GHR TMEM67 USP8 AP4B1 UCP2 HIRA LEP IQSEC2 CERKL NRL PAX6 TBX1 SRY H6PD CREBBP PRKAR1A PROM1 ZNF41 PCSK1 RYR1 PCSK1 EHMT1 IMPDH1 CNNM2 RNPC3 C8ORF37 ZNF711 LEPR TTC8 ALMS1 PRCD PROKR2 ELN PNPLA6 MTMR14 PAX4 MKKS GATA4 SYP EDNRB VPS13B FGF17 PRPF4 HNF1A CA4 GDI1 TUB POMC AIP TTC8 ENPP1 KIDINS220 SLC9A7 CEP164 NSD1 NR2E3 TBX1 HNF4A PWRN1 MC3R KIDINS220 USP7 KMT2A BDNF MTTP PCARE ARL6 POMC SUFU PIGT P2RY11 IQSEC2 BBS10 RAB23 KCNJ18 PDE4D BBS9 HDAC4 TUB XYLT1 SEC24C PDSS1 HGSNAT EIF2S3 IGF1R MAGEL2 IPW FTO GCK SPRY4 KCNJ11 PRMT7 ARHGEF18 DYRK1B XYLT1 RP1 GNAS CLRN1 AHR MED12 HDAC8 CTSH BRAF TTC8 ABCC9 PNKP IFT172 FGFR1 SIM1 MKKS FTSJ1 MAPK8IP3 ALB IFT74 ALMS1 GUCA1B UPF3B ATRX PDE6G CTNNB1 CCDC28B HERC1 SETD2 SLC10A7 APOE NIPBL BBS7 RAI1 GLI3 HCFC1 PRDM16 TOPORS WDR11 BBS5 IDH3B PIK3CA SCAPER MYF6 ARL2BP SPG11 IGSF1 CXORF56 ADRB2 HS6ST1 RREB1 LAS1L PDE6B AP4M1 BLK UBE2A IL17RD ADNP TBX3 NPAP1 P4HTM TMCO1 EIF2S3 PRPF3 CARTPT SMC3 POMC SPATA7 SH3KBP1 MECP2 CYP19A1 BBS12 MKS1 NKAP HDAC8 RERE PRKAR1A TAF1 UBE3A MLXIPL KCNJ11 KCNJ11 INPP5E HCRT IGF1 ABCC8 RPGR HNF4A APC2 CNKSR2 PIGA BLK BIN1 PRMT7 MC4R PPARG RPS6KA3 HUWE1 BAZ1B PDGFB PROKR2 NIN AHI1 RBMX SOX2 SAG MECP2 TRAF7 WDPCP HERC2 ABCC8 GP1BB TRAPPC9 BBS12 CEP290 TRIP4 ADNP MKRN3-AS1 PTCHD1 ACSL4 CUL4B BAP1 NR0B2 PROK2 TERT PCNT PCNT EYS WT1 FGFR3 IFT27 RGR GTF2I ZNF711 SDCCAG8 EMD LAS1L CACNA1S GNAS DHX38 IDH3A USP27X DYNC2I2 PIGT MEN1 ATP7B THOC2 PDE4D TACR3 LEPR RHO POGZ MRAP2 EXOC6B BBS5 ZBTB20 PIGL FOXP1 AP4S1 RP9 PTCH1 BBS7 SH2B1 KLHL7 EHMT1 DNMT3A ARMC5 RLBP1 ALG13 AGTR2 HNF4A MYT1L VPS13B CDH23 PAX6 PAK3 SMARCB1 THRA LEP BBS4 ARL13B DUSP6 MKRN3 TRAPPC9 AFF4 SDCCAG8 TBX1 GHRL BBS1 STX16 BBIP1 USH2A MOG LMNA PROK2 OFD1 SIM1 FLII RP2 SETD5 MOG FRMPD4 DPYD IFT172 APPL1 ARNT2 SNORD116-1 NSMF BBS1 DLG3 AP4E1 FAM161A RPE65 PDE4D PRPH2 ROM1 TBL2 OTX2 FHL1 RNF135 ERMARD C8ORF37 NPHP1 CEP19 DMD SEMA4A HELLPAR ARL3 PHIP CEL MAN1B1 LRAT CANT1 GABRD TULP1 SNRNP200 IFT88 MTFMT AKT2 FSCN2 CEP290 MERTK SEMA3A BBIP1 PDE11A CHD7 IMPG2 POMGNT1 SMARCE1 CD46 ABCC8 SMAD4 IFT172 MAN1B1 CUL4B USP9X PRPF31 PTEN KDM6A IGFALS WNT4 SETD2 GNAS TBX3 PDE6A FEZF1 USP8 CRB1 ZNF81 GABRA3
Protein Mutations 1
G551D