Systemic Mastocytosis (SM) is a rare, clonal, neoplastic proliferation of mast cells, resulting in heterogeneous symptoms due to infiltration of clonal mast cells in different organ systems, including, but not limited to, bone marrow, GI tract, skin, liver and spleen.2,3,4
The median time from symptom onset to the diagnosis of SM can take up to seven years and involve patients visiting multiple specialists.5 Additionally, prognosis for patients with advanced forms of systemic mastocytosis is poor with median survival ranging from less than six months to three years depending on subtype.6,7 With its prevalence in greater than 90% of cases, the KIT D816V mutation is both a hallmark of SM and part of the clinical criteria for diagnosing SM.8,9
Patients with SM may have severe, unpredictable symptoms that negatively affect quality of life, including, but not limited to:
– Adult-onset cutaneous mastocytosis10
– Anaphylaxis (in adult patients), often severe and presenting with cardiovascular features, including hypotensive syncope5
– Chronic diarrhea, nausea, and vomiting5
The vast majority of adult patients with SM have the KIT D816V mutation, with studies showing an increase in levels of the KIT D816V mutation when comparing indolent SM to aggressive SM.1,3,6,11 Low-sensitivity assays may fail to detect the KIT D816V mutation and testing for this mutation using a non-invasive and highly sensitive test may shorten patients’ time to diagnosis.8,12 Patients diagnosed with SM with the KIT D816V mutation may respond to treatments targeting this mutation.8 Additionally, monitoring levels of the KIT D816V mutation may aid in the evaluation of a patients’ response to treatment and disease progression.13
The KIT D816V Digital PCR test by Labcorp is a highly sensitive assay that detects this mutation down to 0.03%.
What is the Program?
Systemic Mastocytosis (SM) is a rare disorder characterized by neoplastic proliferation of mast cells driven by the KIT D816V mutation in greater than 90% of cases.1 Early biomarker testing using a non-invasive, highly sensitive, and quantitative KIT D816V test may reduce a patient’s time to diagnosis. This test is provided by Labcorp Oncology for eligible patients at no-charge through the sponsored testing program from Blueprint Medicines.*
Patient must be age 18 or older, have not been tested previously under this program, AND have TWO or more of the following signs and symptoms of systemic mastocytosis.
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Send patient to a Labcorp Patient Service Center along with completed test requisition form for specimen collection.
Blueprint Medicines is a global, fully integrated biopharmaceutical company that invents life-changing medicines. We seek to alleviate human suffering by solving important medical problems in two core focus areas: allergy/inflammation and oncology/hematology. Our approach begins by targeting the root causes of disease, using deep scientific knowledge in our core focus areas and drug discovery expertise across multiple therapeutic modalities. We have a track record of success with two approved medicines, including AYVAKIT®/AYVAKYT® (avapritinib) which we are bringing to patients with systemic mastocytosis (SM) in the U.S. and Europe. Leveraging our established research, development, and commercial capability and infrastructure, we now aim to significantly scale our impact by advancing a broad pipeline of programs ranging from early science to advanced clinical trials in mast cell diseases including SM and chronic urticaria, breast cancer and other solid tumors. For more information, visit www.BlueprintMedicines.com and follow us on X (formerly Twitter; @BlueprintMeds) and LinkedIn.
AYVAKIT® (avapritinib) is a kinase inhibitor approved by the European Commission for the treatment of three indications: adults with indolent systemic mastocytosis (ISM), adults with aggressive systemic mastocytosis (ASM), systemic mastocytosis with an associated hematological neoplasm (SM-AHN) or mast cell leukemia (MCL), after at least one systemic therapy, and adults with unresectable or metastatic gastrointestinal stromal tumors (GIST) harboring the PDGFRA D842V mutation. Under the brand name AYVAKIT®, the medicine is approved in the U.S. for the treatment of adults with ISM, adults with advanced SM, including ASM, SM-AHN and MCL, and adults with unresectable or metastatic GIST harboring a PDGFRA exon 18 mutation, including PDGFRA D842V mutations.
To learn about ongoing or planned clinical trials, contact Blueprint Medicines at [email protected] and +31 85 064 4001. Additional information is available at blueprintclinicaltrials.com and clinicaltrials.gov.
Please click here to see the Summary of Product Characteristics for AYVAKYT.
