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Report for Clinical Trial NCT04226950

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Prospective, Single-center Clinical Trial of Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in the Treatment of Childhood Essential Thrombocythemia

Objectives: To compare the efficacy and safety in children (<18 years) diagnosed as essential thrombocythemia treated with the Pegylated Interferon Alfa-2b vs. Interferon Alfa. Study Design: A prospective, open-label, nonrandomized, single-center clinical trial

NCT04226950 Essential Thrombocytopenia
MeSH:Thrombocytopenia Thrombocytosis Thrombocythemia, Essential
HPO:Thrombocytopenia Thrombocytosis

2 Interventions

Name: Recombinant Interferon Alpha

Description: Recombinant Interferon Alpha, with an initial dose of 300 wu twice a week. Other interferons that have been listed can be used if Recombinant Interferon Alpha (300 wu) is not available, and the specific dose will be determined by the researchers;
Type: Drug
Group Labels: 1

Recombinant Interferon Alpha

Name: Pegylated interferon alfa-2b

Description: Pegylated Interferon Alfa-2b, with an initial dose of 135 ug once a week (body surface area < 1.73 m2) or 180 ug once a week ( body surface area≥1.73 m2).
Type: Drug
Group Labels: 1

Pegylated Interferon Alfa-2b


Primary Outcomes

Description: Proportion of subjects with a platelet count <600×109/L after 3 months of treatment will be evaluated.

Measure: Change in platelet count

Time: 3 months

Secondary Outcomes

Description: To compare the complete hematologic response rates between different treatment groups

Measure: The complete hematologic response rates

Time: 3 months

Description: Time to response in platelet count (<600×109/L) between different treatment groups

Measure: Time to response in platelet count

Time: 3 months

Description: To compare the proportion of subjects that display change on key biomarkers of the disease- JAK2V617F, CALR, MPL mutations.

Measure: Impact of therapy on key biomarkers

Time: 12 months

Description: To estimate incidence of major cardiovascular and thrombotic events (defined as cardiovascular death, myocardial infarction, stroke, transient ischemic attack, pulmonary embolism, Budd Chiari syndrome, deep vein thrombosis, and any other clinically relevant thrombotic event) while on active treatment or observation following end of treatment between different treatment groups

Measure: Incidence of major cardiovascular and thrombotic events

Time: 12 months

Description: To estimate incidence of development of myelodysplastic disorders, myelofibrosis, or leukemic transformation between different treatment groups

Measure: Incidence of development of myelodysplastic disorders, myelofibrosis, or leukemic transformation.

Time: 12 months

Description: To compare the proportion of subjects that display change in Myeloproliferative Neoplasm Symptom Assessment Form total symptom score (0-100 scores, higher scores mean a worse outcome) between different treatment groups.

Measure: Change in Myeloproliferative Neoplasm Symptom Assessment Form total symptom score

Time: 3 months

Description: To compare incidence of specific pre-defined toxicity including fatigue, flu-like symptoms, dizziness, injection site necrosis, dyspnea, pain, depression, blurred Vision, insomnia, anorexia, weight Loss, weakness, pruritis, sweating, fever, decreased Libido, hot Flashes, flushing.

Measure: Specific pre-defined toxicity

Time: 12 months

Description: To compare the proportion of subjects that display change on bone marrow histopathology

Measure: Impact of therapy on bone marrow histopathology

Time: 12 months

Description: To compare the proportion of subjects that display change on cytogenetic abnormalities.

Measure: Impact of therapy on cytogenetic abnormalities

Time: 12 months

Description: To compare the incidence of death while on active treatment or observation following end of treatment

Measure: Death while on active treatment or observation following end of treatment

Time: 12 months

Purpose: Treatment

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 V617F

- Platelet count ≥ 450 × 109 / L for more than 6 months(If the patient has JAK2 V617F, CALR or MPL gene mutation, the history may be less than 6 months) - Platelet count ≥ 1000 × 109 / L at screening - The guardians has provided written informed consent prior to enrollment Exclusion Criteria: - Known to meet the criteria for primary myelofibrosis or polycythemia vera by 2016 WHO criteria - Presence of any life-threatening co-morbidity - Secondary thrombocytosis - Familial thrombocytosis - Resistance, or intolerance, or any contraindications to interferon - Interferon is used in the past 1 month before enrollment - Patients with previous or present thrombosis or active bleeding - WBC<4× 109 / L - HGB<110g/L - Poor control of thyroid dysfunction - Patients with a prior malignancy within the last 3 years - Patients with severe cardiac or pulmonary dysfunction - Severe renal damage (creatinine clearance < 30 ml / min) - Severe liver dysfunction (ALT or AST > 2.5×ULN) - Patients diagnosed as diabetes with poor control - Patients with hepatitis B virus, hepatitis C virus replication or HIV infection - Patients with a history of drug / alcohol abuse (within 2 years before the study) - Patients that have participated in other experimental researches within one month before enrollment - History of psychiatric disorder - Any other circumstances that the investigator considers that the patient is not suitable to participate in the trial Inclusion Criteria: - <18 years old - Male or Female - Diagnosis of essential thrombocythemia according to the 2016 WHO criteria. --- V617F ---

- Platelet count ≥ 450 × 109 / L for more than 6 months(If the patient has JAK2 V617F, CALR or MPL gene mutation, the history may be less than 6 months) - Platelet count ≥ 1000 × 109 / L at screening - The guardians has provided written informed consent prior to enrollment Exclusion Criteria: - Known to meet the criteria for primary myelofibrosis or polycythemia vera by 2016 WHO criteria - Presence of any life-threatening co-morbidity - Secondary thrombocytosis - Familial thrombocytosis - Resistance, or intolerance, or any contraindications to interferon - Interferon is used in the past 1 month before enrollment - Patients with previous or present thrombosis or active bleeding - WBC<4× 109 / L - HGB<110g/L - Poor control of thyroid dysfunction - Patients with a prior malignancy within the last 3 years - Patients with severe cardiac or pulmonary dysfunction - Severe renal damage (creatinine clearance < 30 ml / min) - Severe liver dysfunction (ALT or AST > 2.5×ULN) - Patients diagnosed as diabetes with poor control - Patients with hepatitis B virus, hepatitis C virus replication or HIV infection - Patients with a history of drug / alcohol abuse (within 2 years before the study) - Patients that have participated in other experimental researches within one month before enrollment - History of psychiatric disorder - Any other circumstances that the investigator considers that the patient is not suitable to participate in the trial Essential Thrombocytopenia Thrombocytopenia Thrombocytosis Thrombocythemia, Essential This is a prospective, open-label, nonrandomized, single-center clinical trial between Interferon Alfa and Pegylated Interferon Alfa-2b in childhood essential thrombocythemia (<18 years). --- V617F ---



HPO Nodes


HPO:
HP:0001873: Thrombocytopenia
Genes 412
CTC1 TBXAS1 RNASEH2C SRP54 MYORG SLC20A2 TET2 MYH9 HLCS CD40LG ERCC6L2 XPR1 CFI IVD SCARB2 UBE2T MPL DOCK6 RBPJ VPS33A EFL1 FASLG STOX1 OCRL TINF2 FOXP3 PRKCD CR2 IRAK1 FCGR2C GBA ACTN1 TINF2 PSMB8 NHEJ1 IL7R TNFSF12 CFI TINF2 LAT NHP2 TBX1 DHFR TERT DNAJC21 VWF SAMHD1 G6PC3 MECOM UROS FASLG CORIN UFD1 GP9 SBDS NHP2 MYSM1 CD81 TNFSF12 CFH RNASEH2A LRBA ARHGEF1 DNAJC21 ITGA2B DCLRE1C XRCC2 HELLPAR NFKB2 NOP10 JMJD1C CD46 PALB2 RAG2 DGUOK FCGR2A WAS POMP KDM6A FANCE ABL1 NHP2 ICOS NFKB1 FCGR2B CA2 HLA-DRB1 FAS RAD51 MMAA STAT3 SEC24C STT3B C1R GBA AGK FANCD2 TET2 VWF RTEL1 ITGB3 ANKRD11 CDC42 TERT FANCC IFNG IRF2BP2 PEPD GUCY1A1 SPATA5 GBA ACD BCOR RUNX1 FLT1 COMT ACP5 GBA ERCC4 MVK CFB SBDS WAS NFKB1 NFKB2 GBA GP1BB MMACHC CDC42 MAP2K1 GATA1 BRCA1 PARN STIM1 RFWD3 KIF15 PCCA PSMB4 DNASE1 TET2 BRAF GATA2 ABCA1 ZBTB16 NUMA1 TINF2 DKC1 ITGB3 UROS TREX1 SALL4 HYOU1 STAT5B GBA MMUT C1QA RAG2 TERC MMUT JAK2 FANCB RREB1 FANCA MPL HOXA11 SLC35A1 ELANE FANCC CD46 SLFN14 MAD2L2 KRAS FOXP3 RUNX1 MMUT CD19 SARS2 SBDS WRAP53 ACAD9 GP1BB EFL1 GFI1B NABP1 TREX1 FARS2 SLC19A2 WIPF1 TERC DKC1 NSUN2 ETV6 NBN USP18 PTPN11 WAS STAT3 SP110 SRC PRF1 EOGT RARA SALL4 HLCS C3 CD109 MYH9 TERT TNFAIP3 MECOM PRF1 SC5D ITGA2 ITK SMPD1 PRKCD ABCD4 FLI1 ATRX NOS3 GATA1 NPM1 TPP2 COL4A5 ANKRD26 MTOR TCN2 TUBB1 PRDX1 WFS1 NRAS PRKAR1A OSTM1 SLC46A1 DGKE FIP1L1 MYSM1 HPS5 UBE2T RNASEH2B PML TBL1XR1 SRP54 SMARCAL1 GNA14 ACAD9 FANCE ESCO2 FANCL RFX5 ATP7B OCLN IFIH1 JAK2 MPIG6B HIRA PSAP LIG4 PHGDH SLC35A1 TERC FANCG SF3B1 KMT2D BRIP1 SLC19A2 ADAMTS13 BCR GATA1 NBN FANCF PSMB9 ALG8 GP9 CD36 TALDO1 FAS PDGFB CLCN7 PCCB CD81 NOTCH1 STIM1 ADAR LMBRD1 STAT1 FYB1 PARN TMEM165 RFXANK TNFRSF13C TNFRSF13B STX11 GALC CALR PNP USB1 CIITA RFXAP ADA FLNA COG1 BTK FANCA NBEAL2 CASP10 FANCM RTEL1 SLC46A1 TNFSF11 ARHGAP31 RBM8A ITGA2B CTLA4 SLC7A7 GFI1B RBM8A COG4 LBR PDGFRB RAG1 SAMD9L RAG1 FANCD2 GBA TFRC RASGRP1 CASP10 GP1BB BRCA2 PNP DLL4 TNFRSF11A STAT4 RAD51C HLA-B ARVCF SH2D1A SMARCD2 LARS2 ZAP70 PTPN22 SMARCAL1 RNASEH2C TREX1 SAMD9 BTNL2 APOE SLX4 NPM1 GATA1 COG6 IKZF1 SLC7A7 DKC1 ARPC1B MS4A1 VPS45 CFHR1 RPS19 PLAU TBX1 PRKCD BLOC1S6 GATA1 FANCG APOE FANCI LYST SAMHD1 TET2 STT3B LIG4 SCARB2 CFHR3 DIAPH1 LYST SNX10 RNASEH2A FLI1 CTLA4 FANCB GP1BB TERT GATA1 PRKACG XIAP SPP1 NBEAL2 CTC1 NOP10 GP1BA MMAB GP1BA FAS CFH VPS33A HOXA11 TALDO1 NIPBL GP1BA MPL MAD2L2 CYCS AP3B1 IFIH1 GP1BA THBD SPATA5 TERT ERBB3 WIPF1
Protein Mutations 2
G20210A V617F
SNP 0