SNPMiner Trials by Shray Alag


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Report for Mutation M9T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Pilot Study of Autologous T-Cell Transplantation With Vaccine Driven Expansion of Anti-Tumor Effectors After Cytoreductive Therapy in Metastatic Pediatric Sarcomas

This is a single arm study. The tumor specimen is analyzed for the presence of a fusion protein which corresponds to available peptides. Patients undergo T cell harvest 10 days after an initial priming peptide-pulsed antigen presenting cell (APC) vaccine is performed. Fresh APCs are utilized for initial priming vaccination. All subsequent vaccinations will use cryopreserved APCs. Minimum number of APCs administered per vaccination is 100,000/kg and maximum is 100,000,000/kg. Patients undergo cytoreductive therapy for the treatment of their particular malignancy. This therapy usually consists of multiagent chemotherapy in the context of a separate protocol. Following chemotherapy, infusion of harvested T cells followed by infusion of peptide-pulsed APC vaccinations occurs every 6 weeks for a total of 3 post-priming vaccinations. Influenza vaccine is administered by intramuscular injection concurrent to peptide-pulsed APC vaccines. Interleukin -2 (IL-2) is administered as a continuous intravenous (IV) infusion for 4 days/week for 3 successive weeks starting on the same day as T cell /peptide-pulsed infusions.

NCT00001566 Ewing's Sarcoma Rhabdomyosarcoma Biological: therapeutic autologous dendritic cells Drug: indinavir sulfate Procedure: peripheral blood stem cell transplantation
MeSH: Sarcoma Rhabdomyosarcoma Sarcoma, Ewing
HPO: Ewing sarcoma Rhabdomyosarcoma Sarcoma Soft tissue sarcoma

Tumor specific peptides: Ewings sarcoma Type 1: EF-1 (EWS/FLI-1)*SSSYGQQN/PSYDSVRRGA,Ewing's Sarcoma Type 2: EF-2 (EWS/FLI-2)* SSSYGQ/QSSLLAYNT, Alveolar rhabdomyosarcoma: PXFK (PAX3/FKHR)† TIGNGLSPQ/NSIRHNLSL. Non-tumor specific peptide:HPV16E7 MLDLQPETT-MET-9-THR. See protocol link module for additional information re: peptides.. --- MET-9-THR ---

Primary Outcomes

Description: Immune response was defined as a percent specific lysis of >10% following challenge with peptide pulsed targets, or interferon gamma production following challenge with peptide pulsed targets >2-fold that found with no-peptide controls or a proliferation index >3.0. Tumor specific peptides: Ewings sarcoma Type 1: EF-1 (EWS/FLI-1)*SSSYGQQN/PSYDSVRRGA,Ewing's Sarcoma Type 2: EF-2 (EWS/FLI-2)* SSSYGQ/QSSLLAYNT, Alveolar rhabdomyosarcoma: PXFK (PAX3/FKHR)† TIGNGLSPQ/NSIRHNLSL. Non-tumor specific peptide:HPV16E7 MLDLQPETT-MET-9-THR. See protocol link module for additional information re: peptides.

Measure: Number of Participants With an Immune Response to Tumor-specific and Non-tumor Specific Peptides During a Period of Immune Reconstitution

Time: 20 weeks post vaccination

Description: CD4 counts were measured from peripheral blood using standard flow cytometric techniques at the following timepoints: 2 months post-chemotherapy, 4 months post-chemotherapy and 6 months post-chemotherapy. To be eligible for evaluation for this endpoint, patient much have been <10 years of age and sustained a CD4 count of <300 cells/mcl upon completion of standard therapy. Recovery was defined as a CD4 count > 500 cells/mcl at any timepoint within 6 months of completing chemotherapy.

Measure: The Percent of Patients Who Recover CD4 Counts Within 6 Months of Completion of Chemotherapy

Time: 2 to 6 months

Description: Immune responses were measured following 3 sequential influenza vaccines during the same period as the peptide-pulsed dendritic cell vaccines.

Measure: Number of Participants With an Immune Response to the Translocation Breakpoint Peptide

Time: 5 years

Description: Immune response was defined as a percent specific lysis of >10% following challenge with peptide pulsed targets, or interferon gamma production following challenge with peptide pulsed targets >2-fold that found with no-peptide controls or a proliferation index >3.0.

Measure: Number of Participants With an Immune Response to Non-Tumor-specific Peptide E7

Time: 5 years

Description: Immune response was defined as a percent specific lysis of >10% following challenge with tumor peptide pulsed targets, or interferon gamma production following challenge with tumor peptide pulsed targets >2-fold that found with no-peptide controls or a proliferation index >3.0 to tumor peptide targets.Tumor specific peptides: Ewings sarcoma Type 1: EF-1 (EWS/FLI-1)*SSSYGQQN/PSYDSVRRGA,Ewing's Sarcoma Type 2: EF-2 (EWS/FLI-2)* SSSYGQ/QSSLLAYNT, Alveolar rhabdomyosarcoma: PXFK (PAX3/FKHR)† TIGNGLSPQ/NSIRHNLSL. See protocol link module for additional information re: peptides.

Measure: Number of Participants With an Immune Response to Tumor-Specific Peptides at the Time of Presentation

Time: Once per enrollment

Secondary Outcomes

Description: Overall survival is defined as the time between the first day of treatment to the day of death.

Measure: Percentage of Participants Overall Survival

Time: 5 years

Description: Event free survival is calculated from the date of diagnosis for patients enrolled with newly diagnosed metastatic disease and from the date of the last recurrence detection before enrollment on this study for patients with recurrent disease.

Measure: Percent of Participants: Event Free Survival

Time: 5 years

Description: Here are the number of participants with adverse events. For the detailed list of adverse events see the adverse event module.

Measure: Number of Participants With Adverse Events

Time: 5 years

Description: Overall survival is defined as the time between the first day of treatment to the day of death.

Measure: Median Overall Survival

Time: 5.4 years


HPO Nodes


Ewing sarcoma
Genes 4
EWSR1 RB1 NUTM1 BRD4
Rhabdomyosarcoma
Genes 25
TRIP13 KEAP1 DICER1 PAX7 HRAS DICER1 MLH1 NRAS BUB1B PMS2 SLC22A18 MSH6 NBN BUB1B BUB1 PAX3 CEP57 FOXO1 BUB3 PTCH1 NF1 MSH2 DICER1 NBN MC1R
Sarcoma
Genes 197
REST RB1 SDHC KRAS PAX7 ABCA5 ASPSCR1 RECQL4 SUFU APC ANTXR2 FH GREM1 KRT17 EXT1 PIK3CA BMPR1B RASGRP1 KIT SDHD PRKCD REST KCNN3 IDH2 NF1 CTNNB1 PDGFRB CDKN2B KEAP1 DICER1 DICER1 TAF15 CDKN2A FGFR3 SLC22A18 PTCH2 CDKN2C NBN CHEK2 EP300 AXIN2 CHEK2 IFNG PTH1R COL1A1 FOXO1 TBX18 GJC2 FLT4 PRKAR1A DHCR24 MSH2 MLH1 ANTXR2 GNAS CASP10 TRIP13 NUTM1 MDM2 TSC1 PTEN KCNH1 BUB1B FLNA NF2 ELMO2 NF1 BUB3 DCC MEN1 TSC1 MSH2 TP53 PTEN FAM20C PDGFB BUB1 NOTCH3 ATP6V1B2 TSC1 SUFU FLCN WT1 MSH2 MEN1 FH NRAS MTAP APC NF1 CHEK2 NR4A3 NBN APC NF2 TSC2 IL6 SPRED1 AKT1 NRAS BUB1B SOS1 FLCN SDHC SMARCB1 IDH1 LMNA MSH6 SDHC TSC2 NF2 SRC BUB1 APC RECQL4 ABCA5 SDHB GNAS APC PDGFRB VEGFC HRAS KCNH1 FAS BRD4 PRLR DLC1 SDHB PIK3CA WRN TP53 MAP2K1 IDH1 BRAF MLH1 CDKN1A RPS19 FOXC2 EWSR1 PTCH1 APC AKT1 CDKN2A KIT TP53 PDGFB AKT1 MSH6 EWSR1 CDC73 KIT NRAS IDH2 EXT2 CDKN1B SOS1 NF1 KLLN APC TSC2 SSX2 SEC23B DICER1 PIK3CA PDGFRA FAS EXT1 APC RECQL4 HRAS MLH1 CTNNB1 BMPR1A PMS2 EXT2 WRN PTEN SSX1 SDHA PTPN11 SDHB BUB1B PAX3 FASLG GDF5 CEP57 SQSTM1 CDC73 EXT1 TP53 PTPRJ CDKN1B PLCD1 RB1 APC PTCH1 MC1R