SNPMiner Trials: Mutation Report
Report for Mutation I332E
Developed by Shray Alag, 2019.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
The outcome of HMA-refractory patients with MDS or AML is dismal with a median survival of 5
months after failure, representing a significant unmet medical need due to the very limited
treatment options. In this context, a specific targeting of the leukemic stem cell (LSC)
seems a promising option to selectively combat the leukemic progenitor cells. In fact, CD123
is overexpressed in AML and MDS progenitors making it an attractive target for
immunotherapy-based approaches. JNJ-56022473 is a promising compound that has been engineered
with regard to this strategy and the current phase II trial has the aim to evaluate the
overall hematological response rate at 3 months in HMA refractory/relapsed AML and MDS
patients.
NCT02992860 Myelodysplastic Syndrome (MDS) Acute Myeloid Leukemia (AML) Drug: JNJ-56022473 Procedure: Bone marrow analyses and CBC with differential Other: Flow cytometry analyses Other: Central biobanking Procedure: Histopathology analysis Genetic: Cytogenetic analysis Procedure: Serum chemistry Procedure: Automated CBC Procedure: Pregnancy Test
To enhance the cytotoxicity of the first-generation antibody CSL360, the
proprietary Xencor (Xmab®) technology was applied and two amino acid mutations (S239D and
I332E) were introduced into the Fc region. --- S239D --- --- I332E ---
Primary Outcomes
Description: Overall hematological response rate at 3 months (either CR, PR, marrow-CR, HI, SD)
Measure: Overall hematological response rate
Time: 3 months
Secondary Outcomes
Description: Toxicity as measured by NCI CTCAE 4.03
Measure: Toxicity
Time: 3 or 12 months
Measure: Overall survival
Time: 1 year
Measure: Progression-free-survival
Time: 1 year
Measure: Overall hematological response rate at 12 months
Time: 1 year
Description: measured by EORTC-QLQ30
Measure: Quality of life EORTC-QLQ30
Time: 9 or 15 months
Measure: Time to treatment failure
Time: 3 or 12 months
Measure: Duration of response (best overall response)
Time: 3 or 12 months
HPO Nodes
Genes 29
MPL MLF1 NSD1 JAK2 KRAS NPM1 ELANE DKC1 ETV6 TCIRG1 DNAJC21 SRP54 EFL1 FLT3 NUP214 CEBPA THPO MLLT10 RUNX1 PIGA CBFB BRCA2 KIT PICALM SBDS GFI1 SH3GL1 LPP DNMT3A Genes 12
GATA2 F13A1 CBL ARHGAP26 F13B KRAS PTPN11 SAMD9L KIT SETBP1 NF1 NRAS Genes 68
FANCC MPL RAD51 FANCD2 RAD51C FANCE JAK2 TET2 RAF1 GFI1B FANCB FANCF FANCG LIG4 ASXL1 EFL1 PTPN11 BRIP1 ERCC4 SAMD9 THPO SF3B1 PIGA BRCA1 BRAF UBE2T ATRX BRCA2 SH2B3 TINF2 CALR SBDS FANCI NBEAL2 RECQL4 BUB1 BUB1B GATA2 RPS14 ELANE DKC1 TCIRG1 DNAJC21 SRP54 SMARCD2 SRP72 RPS19 FANCL HAX1 MAD2L2 XRCC2 RUNX1 BUB3 FANCM TERC CEP57 TRIP13 KIT TERT GINS1 GFI1 SLX4 HSPA9 PALB2 NAGS TP53 RFWD3 FANCA