View clinical trials related to Mastocytosis.
Filter by:Rare diseases frequently affect women of childbearing age. Pregnancy in these women has become less rare, but remains associated with high levels of complications. One obstacle to their optimal management during pregnancy is that there are no prospective studies of pregnancy during rare diseases and several connective tissue diseases. As a consequence, the management of these pregnancies is non-standardised in terms of treatment, monitoring (frequency of consultations, laboratory tests and ultrasound), and organisation of care. Moreover, although these women (all diseases combined) are frequently exposed to medications potentially incompatible with pregnancy, little is known about the frequency of these exposures and especially their consequences to mother and child. For these reasons, researchers and clinicians from different specialties created an interdisciplinary research group on pregnancy and rare diseases (GR2), intended to improve the management of these patients' pregnancies. Using a single computer server, the investigators plan to set up a large prospective study of pregnancies in patients with rare diseases: various forms of myositis, lupus, antiphospholipid syndrome, Sjogren syndrome, scleroderma, and inflammatory rheumatic diseases. The investigators objective is to analyse the complications of pregnancies in women with rare diseases and then to improve their management and their quality of life.
The aim of this study is to evaluate the efficacy in terms of clinical and biological response rates of Cladribine plus Pegylated Interpheron alpha-2a therapy in patients with advanced systemic mastocytosis carrying D816V or other exon 17 KIT mutations.
Anaphylaxis is a serious allergic reaction that develops rapidly and can cause death. Some patients experience anaphylaxis is association with exercise, a disorder called exercise-induced anaphylaxis. A subset of patients with unexplained anaphylaxis, especially those with hypotension during the anaphylactic episodes, have been shown to have abnormal, clonal populations of a certain cell type, mast cells, in the bone marrow. This has been described in at least one patient with exercise-induced anaphylaxis. The investigators would like review the findings in a group of patients with exercise-induced anaphylaxis who have undergone evaluation for the presence of abnormal, clonal mast cells.
This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain. Patients up to 80 years of age with mastocytosis may be eligible for this 1-day study. Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo the following tests and procedures: - Medical history and physical examination. - Laboratory studies, if medically indicated. - Blood tests to identify genetic changes important in the growth, development, and functioning of mast cells. - Bone marrow aspiration and biopsy. For the bone marrow procedure, the skin over the hipbone and the outer surface of the bone itself are numbed with local anesthesia. Then, a special needle is inserted into the hipbone and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted into the same area to collect a small piece of the bone marrow. Additional procedures may include allergen testing, urinalysis, and 24-hour urine collection. Participants will receive an evaluation of their mastocytosis.