Characteristics of Mast Cells in Mastocytosis
Summary
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 Five milliliters (1 teaspoon) of marrow is withdrawn through a syringe and a 1/2-inch piece of tissue is extracted with a special needle.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.
Description
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.
Study Design
N/A
Conditions
Mastocytosis
Location
National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda
Maryland
United States
20892
Status
Completed
Source
National Institutes of Health Clinical Center (CC)
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00001356
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Mastocytosis
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).
Mastocytosis, Cutaneous
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.
Urticaria Pigmentosa
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.
Mastocytosis, Systemic
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.
Leukemia, Mast-cell
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.
Clinical Trials
Everolimus (RAD001) as Therapy for Patients With Systemic Mastocytosis
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...
Evaluation of Response of Dasatinib to Treat Mastocytosis
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...
Phase II PKC412 in Aggressive Systemic Mastocytosis and Mast Cell Leukemia
To evaluate the efficacy of twice-daily oral doses of PKC412 when administered to patients with ASM/MCL and AHNMD (associated hematological clonal non-mast cell lineage disease) by measuri...
Obatoclax for Systemic Mastocytosis
The goal of this clinical research study is to learn if obatoclax mesylate can help to control systemic mastocytosis. The safety of this drug will also be tested.
This study will investigate mast cell precursors that circulate in the blood. In a group of diseases collectively known as mastocytosis, mast cells accumulate in abnormal amounts in the sk...
PubMed Articles
Mastocytoses are a group of rare diseases characterized, in most cases, by a benign proliferation and accumulation of mast cells in different tissues. In children, mastocytosis affects usually exclusi...
Clinical aspects of paediatric mastocytosis: a review of 101 cases.
Background Cutaneous mastocytosis (CM) is a typical presentation of mastocytosis in children. However, systemic mastocytosis may also occur in children. Objective We tried to characterize the cl...
Indolent systemic mastocytosis without skin involvement vs. isolated bone marrow mastocytosis.
Interferon-α Treatment in Systemic Mastocytosis.
Patients with systemic mastocytosis are rare, constitute a heterogenous clinical entity and some may not require treatment until long after diagnosis. However, most patients who present with disabling...
