SNPMiner Trials by Shray Alag


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Report for Mutation K509I

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

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 --- --- F522C --- --- K509I ---

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


HPO Nodes


Mastocytosis
Genes 8
KIT ASXL1 KIT TET2 KIT KIT KIT SRSF2