Mastocytosis

This study tests an experimental drug called CGT9486 (bezuclastinib) in people with advanced systemic mastocytosis, a rare and serious blood disorder. The drug aims to control the disease by blocking a key protein that drives abnormal mast cell growth. About 140 adults with aggre…

This study follows 80 people in Germany with indolent systemic mastocytosis whose symptoms are not well controlled by current treatments. Researchers will track how avapritinib affects quality of life and symptom control over up to 24 months in everyday medical practice. The goal…

This study evaluates whether new blood tests can more accurately diagnose the cause of recurrent angioedema—a condition causing severe swelling—compared to current tests. Researchers will compare novel diagnostic assays with traditional ones in 600 people aged 12 and older who ha…

This study collects bone marrow and blood samples from up to 600 people with mastocytosis, a condition where too many mast cells cause symptoms like itching and bone pain. Researchers will study what makes these cells grow and survive. The goal is to learn more about the disease,…

This study is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

This study watches how indolent systemic mastocytosis (ISM) affects people in everyday life. Researchers will collect information on symptoms, treatments, and quality of life from 150 adults. The goal is to better understand the disease and how it is managed, including the use of…

This study aims to find how common the KIT D816V mutation is in people with suspected clonal mast cell disease. Researchers will collect blood samples from 450 participants and test them using two sensitive methods. The results may improve understanding and diagnosis of these rar…

This study will collect health information from 13,000 children and adults with mast cell disorders across 20 French medical centers. Researchers want to learn how common these diseases are, how they progress, and what symptoms patients have. The goal is to improve diagnosis and …

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

This study looks at different forms of IgE (a protein involved in allergic reactions) in healthy volunteers and people with conditions like severe allergies, chronic hives, mastocytosis, and immune deficiencies. Researchers aim to understand how these IgE variations relate to hea…