Track topics on Twitter Track topics that are important to you
This study will determine what growth factors are involved in promoting and inhibiting mastocytosis-an abnormal increase of mast cells in one or more organ systems. Mast cells release chemicals that can cause itching, blisters, flushing, bone pain, and abdominal pain. Little is known about the disease and there is no cure. Steroids and antihistamines can help reduce some symptoms.
Patients from birth to 80 years of age with increased mast cells in at least one organ system may be eligible for this 3-year study. Family members may also be enrolled for genetic testing.
Patients will be evaluated yearly at the NIH Clinical Center with the following tests and procedures:
- Medical history and physical examination.
- Blood samples.
- Laboratory blood tests, as medically indicated.
- Bone marrow aspiration and biopsy - For the bone marrow aspiration and biopsy, the back hipbone is punctured with a sterile needle. Five milliliters (1 teaspoon) of marrow is withdrawn through a syringe and a 1/2-inch piece of tissue is extracted with a special needle.
The blood and bone marrow samples will be used for clinical care and for research to determine if mastocytosis is due to mast cell growth factors or genetic changes.
Patients who require further evaluation and tests will have recommendations made to their primary physician. Any patient who requires immediate treatment will be admitted to the hospital. Standard medical treatment may include antihistamines for itching; steroids for severe abdominal symptoms such as cramping, diarrhea, and evidence of increased mast cells determined by an upper GI study; and adrenaline for anaphylactic shock. Patients who do not respond to conventional treatment may be offered participation in an experimental therapy study.
Participating family members will have a medical history and a blood sample drawn to look for genetic abnormalities.
This protocol is designed to examine those growth potentiating and inhibiting factors which regulate mast cell number in patients with mastocytosis, and to explore the molecular basis of the disease process in hopes of improving therapy. Patients entered into the study are seen initially and may elect to be reevaluated yearly. The majority of patients to be entered into this protocol are currently followed at NIH on other protocols. Medical workup and treatment are in accordance with standard medical practice. The protocol is for 3 years, to be extended as facilities, faculty, and patients permit.
National Institute of Allergy and Infectious Diseases (NIAID)
National Institutes of Health Clinical Center (CC)
Published on BioPortfolio: 2014-07-23T21:58:44-0400
The goal of this clinical research study is to see if RAD001 can help to control the disease in patients with systemic mastocytosis (SM). The safety of this treatment will also be studied...
Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and...
The Mast Cell Connect Registry is a voluntary, observational database that will capture demographic, socioeconomic, and disease information directly from patients with mastocytosis via a s...
This is a randomized, placebo- and active-controlled, 2-period crossover, 2 cohort study in adult patients with indolent systemic mastocytosis (ISM). The purpose of the study is to determ...
This is a multicenter, open-label, single arm phase II non-randomized study of dasatinib in which subjects with systemic mastocytosis (SM) will be treated with a continuous regimen of dasa...
Data on interleukin-31 (IL-31) involvement in the patho-genesis of mastocytosis, and its impact on pruritus development in the disease, are limited. The aim of this study was to analyse distinct IL-31...
Mastocytosis is characterized by clonal mast cell proliferation with accumulation within various organs and uncontrolled activation with excessive mast cell mediator release. Ocular manifestations hav...
Gastrointestinal (GI) involvement by systemic mastocytosis (SM) presents with nonspecific symptoms, and pathologic diagnosis can be difficult when a subtle mast cell infiltrate is present. This series...
Systemic mastocytosis is a clonal disorder of mast cells that may variably present with characteristic skin lesions, episodes of mast cell mediator release, and disturbances of hematopoiesis. No curat...
Advanced systemic mastocytosis comprises rare hematologic neoplasms that are associated with a poor prognosis and lack effective treatment options. The multikinase inhibitor midostaurin inhibits KIT D...
A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).
Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN.
The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules.
A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis.
A form of systemic mastocytosis (MASTOCYTOSIS, SYSTEMIC) characterized by the presence of large numbers of tissue MAST CELLS in the peripheral blood without skin lesions. It is a high-grade LEUKEMIA disease with bone marrow smear of >20% MAST CELLS, multi-organ failure and a short survival.
Osteoporosis is a disease in which the bones become extremely porous, are subject to fracture, and heal slowly, occurring especially in women following menopause and often leading to curvature of the spine from vertebral collapse. Follow and track&n...
Pain is defined by the International Association for the Study of Pain as “an unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage”. Some illnesses can be excruci...
An anesthesiologist (US English) or anaesthetist (British English) is a physician trained in anesthesia and perioperative medicine. Anesthesiologists are physicians who provide medical care to patients in a wide variety of (usually acute) situations. ...