Mastocytosis Clinical Trials and Treatments

Mastocytosis is a clonal disorder of mast cells, the immune cells that release histamine, in which abnormal mast cells build up in the skin, bone marrow and other organs. Most adults with systemic mastocytosis carry an acquired KIT mutation called D816V that drives mast cell growth. Cutaneous mastocytosis, including the form called urticaria pigmentosa, is the most common type in children, with brown spots on the skin that swell and itch when rubbed (Darier's sign).

The most common symptoms of Mastocytosis include Flushing, pruritus (itching), and urticaria, Abdominal pain, diarrhea, and nausea, Anaphylactic reactions triggered by food, insect venom, or medications, Headaches, Bone pain or pathologic fractures from bone marrow involvement, among others. Mastocytosis affects approximately 1 in 10,000 to 1 in 300,000 (estimates vary widely). Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Mastocytosis from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Kinase inhibitors that target KIT, the gene behind most adult systemic mastocytosis, are the main targeted treatments. Ayvakit (avapritinib) is FDA approved for adults with indolent and advanced systemic mastocytosis, and Rydapt (midostaurin) for adults with the advanced forms.

Yes. As of October 21, 2026, 6 FDA-approved medicines have a current label that names Mastocytosis: Ayvakit (avapritinib), first approved in 2020; Rydapt (midostaurin), first approved in 2017; Cimetidine (Rx tablets) (cimetidine); Gastrocrom (cromolyn sodium (oral concentrate)); Gleevec (imatinib mesylate); and Omeprazole (Rx) (omeprazole). Corticosteroids and immune globulins count once each. The FDA is due to decide on Bezuclastinib by December 30, 2026 and Bezuclastinib by June 29, 2027; the FDA calendar page carries the outcome the day it lands.

Mastocytosis arises from acquired (somatic) genetic changes in the affected cells, commonly involving KIT, rather than from an inherited variant. Most systemic mastocytosis carries an acquired (somatic) activating KIT variant tested in blood or bone marrow; it is not inherited. Additional somatic variants (e.g. TET2, SRSF2, ASXL1, RUNX1) mark more aggressive disease. The condition affects approximately 1 in 10,000 to 1 in 300,000 (estimates vary widely).

For Mastocytosis the genetic testing that matters is usually of the tumor or affected blood cells rather than inherited DNA, looking for KIT. Most systemic mastocytosis carries an acquired (somatic) activating KIT variant tested in blood or bone marrow; it is not inherited. Additional somatic variants (e.g. TET2, SRSF2, ASXL1, RUNX1) mark more aggressive disease.

Those results guide treatment choice and are often the entry requirement for targeted-therapy trials, so ask whether the biopsy was sent for molecular testing and request the report. The Genetic Testing section of this page lists laboratories in the NIH Genetic Testing Registry.

Eligibility for Mastocytosis clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Mastocytosis clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.