Active clinical trials for "Mastocytosis, Systemic"

BLU-285-2405 is a multi-center, synthetic control, observational and retrospective study designed to compare clinical outcomes for avapritinib compared with best available therapy for patients with AdvSM.

Cytokine Production Patterns in Patients with Systemic Mastocytosis Compared with Atopic Dermatitis and Healthy Individuals Summary: This study will examine how mast cells (cells involved in allergic reactions) migrate and multiply in the skin of patients with mastocytosis, a condition characterized by too many mast cells in the body. The mast cells tend to multiply in the skin, causing dark, itchy skin spots known as urticaria pigmentosa. This study will determine if the skin of patients with mastocytosis produces chemicals called cytokines that cause mast cells to migrate to the skin and multiply. The findings will be compared with those from normal volunteers and patients with atopic dermatitis, a skin disease characterized by recurrent itchy rash usually seen in people with a family history of allergies. Healthy volunteers, patients with mastocytosis and patients with atopic dermatitis 18 years of age and older may be eligible for this study. Participants will have the following tests and procedures: Suction blisters - Two to eight small blisters will be raised on the forearm using gentle suction. The fluid in the blisters will be collected with a syringe to study the chemicals produced by the skin. The tops of the blisters may be removed for research. Template study - Patients with high cytokine content in the blister fluid may have a template study. For this procedure, a plastic block (template) with holes matching the blister sites is placed over the blistered area. The wells of the template are filled with salt water and the fluid is removed with a syringe at 3, 8 and/or 24 hours. Patients are hospitalized for 24 hours for this study. Skin biopsy - A skin biopsy will be done to correlate cytokine levels with the number of mast cells in the skin. An area of skin is numbed with an anesthetic and a small circular area about the size of a pencil eraser is removed, using a sharp cookie cutter-type instrument. Blood draw - About 4 tablespoons of blood will be drawn to compare the chemicals in the blood with those in the blister fluid. The blood will also be analyzed for a complete blood count, clotting factors and substances that may be elevated in people with allergies.

Mastocytosis is a heterogeneous rare disease. A 27-item questionnaire to assess the quality of life of patients with cutaneous/ indolent systemic mastocytosis was developed in the German language and validated in the English language in 2015. The team of the University Charité Berlin and the company Moxie - intellectual proprietor of the questionnaire - proposed the use of the recommendations of Baiardini et al. 2010, for linguistic adaptation of this questionnaire in other languages.

In this study, the investigators will determine the utility of Tamoxifen, a non-cytotoxic agent, to improve quality of life, biochemical parameters, and bone marrow involvement in systemic mastocytosis patients having 1) up to 40% bone marrow infiltration by mast cells and/or 2) mediator-release symptoms which are not controlled by tolerated doses of standard "non-cytotoxic" medications regardless of the percentage bone marrow involvement by mastocytosis. The dose of Tamoxifen will be 40 mg/day and the duration of treatment will be for one year. Patients currently taking interferon alfa, imatinib mesylate, or cladribine will be excluded until these medications have been stopped.

The purpose of this study is to explore the key symptoms of individuals with systemic mastocytosis. Interviews of enrolled individuals will be conducted to learn about the disease symptoms and condition. The interview will last approximately 60 minutes and will be conducted by a trained interviewer, be audio-recorded (with patient consent), and all information provided by the patient will be treated confidentially and made anonymous so that it is non-identifiable. The interview may be conducted face-to-face, over the phone, or virtually via Skype, a free video conferencing program, depending upon the patient's geographic location. Patients will be compensated for their participating time. This is not a medication-related study, and no medication will be distributed or tested during this study. Participation in this study will not affect any treatment or assistance that a patient currently receives or may receive in the future.

The purpose of this registration is to list Managed Access Programs (MAPs) related to PKC4, Midostaurin.