SNPMiner Trials by Shray Alag


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Report for Mutation V560G

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations

The aim of this study is to evaluate the efficacy in terms of clinical and biological response rates of Imatinib Mesylate therapy in patients with systemic mastocytosis lacking KIT mutations.

NCT01297777 Systemic Mastocytosis Drug: Imatinib Mesylate
MeSH: Mastocytosis Mastocytosis, Systemic
HPO: Mastocytosis

Apart from wtKit, Kit molecules carrying mutations in the extracellular, transmembrane and juxtamembrane domains, such as V560G, F522C and K509I, remain sensitive to imatinib. --- V560G ---

Primary Outcomes

Description: The grade of bone marrow infiltration is evaluated before and after 6 months of therapy by bone marrow histology and cytology, and flow cytometry performed on highly-purified bone marrow mast cells from patients with B or C findings

Measure: To evaluate the effect of Imatinib Mesylate on the grade of bone marrow mast cells infiltration.

Time: 6 months

Description: The grade of bone marrow infiltration is evaluated before and after 6 months of therapy by bone marrow histology and cytology, and flow cytometry performed on highly-purified bone marrow mast cells from patients without B or C findings, and from those with B or C findings who show response at the intermediate check-point (after 6 months of therapy)

Measure: To evaluate the effect of Imatinib Mesylate on the grade of bone marrow mast cells infiltration.

Time: 12 months

Secondary Outcomes

Description: Skin lesions are evaluated before and after therapy by macroscopic examination and skin biopsy.

Measure: To evaluate the effect of Imatinib Mesylate on mastocytosis skin lesions.

Time: 12 months

Description: Clinical symptoms such as pruritus, flushing, gastrointestinal symptoms and anaphylaxis are assessed before and after therapy using a clinical questionnaire that includes the type, frequency and severity of each symptom.

Measure: To evaluate the effect of Imatinib Mesylate on mastocytosis mast-cell related symptoms.

Time: 12 months

Description: Organomegalies and adenomegalies are assessed before and after therapy by abdominal ultrasound.

Measure: To evaluate the effect of Imatinib Mesylate on mastocytosis-related megalies.

Time: 12 months

Description: Bone alterations are assessed before and after therapy by X-ray survey.

Measure: To evaluate the effect of Imatinib Mesylate on mastocytosis-related bone alterations.

Time: 12 months

Description: Genetic abnormalities are assessed before and after therapy by sequencyng analysis of the c-kit gene and the HUMARA assay.

Measure: To investigate changes after Imatinib Mesilate therapy in mast cell clonality.

Time: 12 months

Description: Serum tryptase is measured before and after therapy.

Measure: To determine the effect of Imatinib Mesylate therapy on serum tryptase levels.

Time: 12 months

Description: The psychological impact of the disease and the quality of life of patients are evaluated before and after therapy by the Dermatology Life Quality Index.

Measure: To determine the effect of Imatinib Mesylate therapy in the psychological impact of the disease and the quality of life.

Time: 12 months

2 Efficacy and Safety of Anlotinib in Patients With Advanced Gastrointestinal Stromal Tumor After Failure of Imatinib: a Prospective, Single Arm and Multicenter Trial

Gastrointestinal stromal tumors (GIST) compose approximately 20% of soft tissue sarcomas with an annual incidence of approximately 7 per million population. GISTs occur throughout the GI tract, most commonly in the stomach or small intestine. The main treatment for localised GIST is surgical resection. At least 40% of these patients will develop recurrence or metastasis following complete resection. Local recurrence, liver metastases and/or dissemination within the abdominal cavity are the most common clinical manifestations. Although imatinib and sunitinib has greatly improved the quality of life and survival of patients with advanced GIST. Analysis of clinical trials revealed that patients with tumours with KIT exon 17 or 18 mutations, with a second mutation in KIT exon 17 or 18, had worse responses to imatinib and sunitinib. Some patients with PDGFRA D842V mutation do not respond to the present standard therapies. Anlotinib (1-[[[4-(4-fluoro-2-methyl-1H-indol-5-yloxy)-6-methoxyquinolin-7-Yl] oxy] methyl]cyclopropanamine dihydrochloride) , a multi-targeted tyrosine kinase inhibitor (TKI), characterized as a highly selective and potent c-KIT, VEGFR, PDGFR, FGFR inhibitor. In vitro and in vivo, Anlotinib has a broad spectrum of inhibitory action on tumor angiogenesis and growth, which showed broad activity against soft tissue sarcoma and GIST with D842V, D816H, V560G and V654A mutations. In 2015, the US FDA granted orphan drug treatment for ovarian cancer.

NCT04106024 Gastrointestinal Stromal Tumors Drug: Anlotinib
MeSH: Gastrointestinal Stromal Tumors
HPO: Gastrointestinal stroma tumor

In vitro and in vivo, Anlotinib has a broad spectrum of inhibitory action on tumor angiogenesis and growth, which showed broad activity against soft tissue sarcoma and GIST with D842V, D816H, V560G and V654A mutations. --- D842V --- --- D816H --- --- V560G ---

Primary Outcomes

Description: Progress Free Survival

Measure: PFS

Time: 18 month


HPO Nodes


Gastrointestinal stroma tumor
Genes 25
PDGFRA CD19 SDHB KIT CD81 SDHC PRKCD SDHB TNFRSF13B TNFRSF13C MS4A1 NFKB1 KIT NFKB2 SDHA SDHC TNFSF12 SDHC CR2 ICOS TNFSF12 SDHB SDHB SDHD KIT
Mastocytosis
Genes 8
KIT ASXL1 KIT TET2 KIT KIT KIT SRSF2