Cause and Natural Course of Pediatric-Onset Mastocytosis

NCT00050193 | Completed

• 2 other identifiers: 03004103-I-0041
• Study Type: observational
• Target: 103
• Locations: 1 country
• Sites: 1

Brief Summary

This study will evaluate children with mastocytosis, a disease of excessive mast cells in tissues such as skin and bone marrow, to identify the cause of the disease and describe its course. Mast cells can release chemicals that cause itching, blisters, flushing, bone pain, and abdominal pain. Usually, mastocytosis in children involves the skin only and is of limited duration. This study, however, will focus on children with more severe disease that more closely resembles adult-onset mastocytosis. Patients up to 21 years of age with childhood-onset mastocytosis may be eligible for this study. Candidates must have one or more of the following abnormalities, which indicate severe disease: enlarged liver or spleen; diffuse skin involvement; history of gastrointestinal bleeding or peptic ulcer; bone marrow biopsy with abnormal mast cells either in number or shape; elevated blood levels of the enzyme tryptase; or abnormal hemoglobin, white blood cells, platelets, or clotting factors. Participants will have a medical history and physical examination; various blood tests, including studies to identify genetic changes that are important in the growth, development, and functioning of human mast cells; and 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 an injection of local anesthesia. Then, a special needle is inserted into the hipbone and about 2 tablespoons of bone marrow are drawn into a syringe. Another needle is then inserted through the first needle to collect a small piece of the bone marrow. Pain will be managed according to the individual patient s needs. Additional procedures, such as a gastroenterology consultation, colonoscopy to examine the colon, or computerized axial tomography (CT) or ultrasound of the abdomen to assess the liver and spleen, may be done if medically indicated. Standard medical treatment, including antihistamines for itching or steroids for abdominal cramping or diarrhea, will be recommended as appropriate. Patients biologic parents may also be enrolled to provide a blood sample for genetic analysis and a bone marrow aspirate and biopsy for clinical and research purposes. Patients will return to NIH once a year for follow-up evaluations until their disease is stable or until the 5-year study ends. ...

Conditions

Mastocytosis

Keywords

Children; Mast Cells; Urticaria Pigmentosa; Bone Marrow; Severe; Mastocytosis; Pediatric Mastocytosis

Eligibility Criteria

• Age: Up to 21 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Children with tissue-diagnosed pediatric-onset mastocytosis formerly enrolled in protocols 90-I-0120, and 93-I-0136 or per physician referral with more severe disease as indicated by one of the following parameters:
• Hepatomegaly or splenomegaly;
• Diffuse cutaneous mastocytosis;
• History of gastrointestinal bleeding or peptic ulcer disease;
• Bone marrow biopsy with abnormal numbers or shaped mast cells or abnormal flow cytometry;
• Serum tryptase greater than 20ng/ml;
• Hematologic abnormalities such as an increase WBC, thrombocytosis, and/or an increase in PT and/or PTT.
• Age birth to 21.0 years of age at the time of entry into the protocol
• Diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy
• Subject has a primary medical care provider outside the NIH
• Subject or parent or guardian is able to give informed consent
• A biological relative with or without the diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy
• Subject has a primary medical care provider outside the NIH

You may not qualify if:

• Age greater than or equal to 21.0 years
• No primary care physician
• Has AIDS or is HIV Positive

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy. 1994 Sep;73(3):197-202; quiz 202-7.

  PMID: 8092552 BACKGROUND

• Kirshenbaum AS, Goff JP, Kessler SW, Mican JM, Zsebo KM, Metcalfe DD. Effect of IL-3 and stem cell factor on the appearance of human basophils and mast cells from CD34+ pluripotent progenitor cells. J Immunol. 1992 Feb 1;148(3):772-7.

  PMID: 1370517 BACKGROUND

• Dvorak AM, Seder RA, Paul WE, Morgan ES, Galli SJ. Effects of interleukin-3 with or without the c-kit ligand, stem cell factor, on the survival and cytoplasmic granule formation of mouse basophils and mast cells in vitro. Am J Pathol. 1994 Jan;144(1):160-70.

  PMID: 7507298 BACKGROUND

MeSH Terms

Conditions

Mastocytosis; Urticaria Pigmentosa; Lymphoma, Follicular

Condition Hierarchy (Ancestors)

Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Mast Cell Activation Disorders; Immune System Diseases; Mastocytosis, Cutaneous; Skin Neoplasms; Neoplasms by Site; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Lymphoma, Non-Hodgkin; Lymphoma; Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Immunoproliferative Disorders

Study Officials

• Melody C Carter, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 25, 2002
• First Posted: November 26, 2002
• Study Start: November 22, 2002
• Study Completion: March 10, 2014
• Last Updated: December 17, 2019

Record last verified: 2014-03-10

Locations

US (1)