Systemic mastocytosis is a rare disorder that causes your body to overproduce mast cells. There are two types of systemic mastocytosis: Advanced and Nonadvanced.
NonAdvanced Systemic Mastocytosis (NonAdvSM)
People with nonadvanced systemic mastocytosis may suffer from a number of chronic symptoms such as:
Neurocognitive:
Difficulty Concentrating, Difficulty Remembering, Brain Fog, Cognitive Dysfunction, Anxiety, Depression
Fatigue:
Tiredness
Skin:
Itching, Flushing, Skin Redness, Spots
Gastrointestinal/Pain:
Nausea, Abdominal Pain, Headache, Bone Pain, Diarrhea, Vomiting, Bloating, Gastroesophageal Reflux Disease (GERD)
NonAdvSM is a chronic illness that severely impacts quality of life. People with NonAdvSM are at risk for severe, life-threatening anaphylactic reactions to various triggers such as insect bites, foods, perfumes, and other environmental allergies.
Nonadvanced systemic mastocytosis is a group of rare, life-long diseases caused by the abnormal accumulation of mast cells in different organs in the body. NonAdvSM accounts for 90% of all SM cases with patients experiencing a range of debilitating symptoms that can be potentially life threatening. Symptoms vary based on the amount of mast cell release and degranulation. Mast cells are a type of immune cell that are important in fighting infections and cause many of the symptoms of allergic reactions. Indolent Systemic Mastocytosis (ISM), Smoldering Systemic Mastocytosis (SSM) and Bone Marrow Mastocytosis (BMM) are considered forms of nonadvanced systemic mastocytosis and in most cases, are caused by a genetic mutation in the KIT tyrosine receptor kinase gene, specifically KIT D816V.
Advanced Systemic Mastocytosis (AdvSM)
People with advanced systemic mastocytosis may suffer from a number of debilitating symptoms such as:
Fatigue, nausea, and abdominal pain
Low blood counts
Bone pain and/or fractures
Abnormal liver function
Gastrointestinal abnormalities
Enlargement of the liver, spleen, and lymph nodes
AdvSM is a life-threatening disease and individuals diagnosed with AdvSM have a have a significantly reduced life expectancy.
AdvSM is a rare, aggressive disease caused by the abnormal accumulation of mast cells in different organs in the body. Mast cells are a type of immune cell that are important in allergic reactions and fighting infections. In most cases, the abnormal accumulation of mast cells is caused by a genetic mutation in the KIT tyrosine receptor kinase gene, specifically KIT D816V.
People diagnosed with AdvSM represent a small portion of the SM population, which makes this disease ultra-rare. Those living with AdvSM have severe and unpredictable symptoms that are considered serious and life-threatening. Based on the diagnosed subtypes patients are expected to have a median overall survival of 2 to 41 months. Early detection and treatment is essential for patients with AdvSM.
Aggressive Systemic Mastocytosis (ASM), Mast Cell Leukemia (MCL) and Systemic Mastocytosis with an Associated Hematologic Neoplasm (SM-AHN) are considered forms of advanced systemic mastocytosis.
Our Systemic Mastocytosis (SM) Clinical Trials
Summit is a Phase 2 clinical trial evaluating bezuclastinib (CGT9486), a selective and potent KIT inhibitor, in people with Nonadvanced Systemic Mastocytosis (NonAdvSM).
FULLY ENROLLED
Apex is a Phase 2 clinical trial evaluating bezuclastinib (CGT9486), a selective and potent KIT inhibitor, in people with Advanced Systemic Mastocytosis (AdvSM).
Systemic Mastocytosis Mosaic
In partnership with the Mast Cell Disease Society, we created a mosaic that features the stories of individuals impacted by Systemic Mastocytosis and those who support them. Members of the Mast Cell Disease Community from around the globe contributed to building this beautiful mosaic created from artwork by Heather Poston. We are proud of this collaboration and are dedicated to supporting this community, believing that together we can make a significant difference in the lives of those impacted by SM.
About the Artist: Heather Poston started experimenting with watercolor 2 years ago creating cards for celebrations. When she learned about Mast Cell diseases and that a close friend was diagnosed with Systemic Mastocytosis, she created art to express her interpretation of the journey her friend experienced with the disease. This artwork expresses the relationship between mast cells and nature and illustrates how something so rare and life-threatening can also be beautiful.
Community Updates & Resources
Resources:
An Introduction to Systemic Mastocytosis
A resource for individuals who have recently been diagnosed with SM or who would like to learn more about SM including: information on diagnosis, symptoms, questions to ask your provider and more.
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