Cause and Natural Course of Pediatric-Onset Mastocytosis

December 14, 2019 updated by: National Institute of Allergy and Infectious Diseases (NIAID)

Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis

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.

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Study Overview

Status

Completed

Conditions

Detailed Description

Mastocytosis in infants and children is an unusual disease characterized by an excess of mast cells in tissues. In pediatric onset mastocytosis, disease is usually localized to the skin and disease is considered to be of limited duration. However, a subset of children appear to develop a clinical picture resembling that observed in adults who have adult-onset disease. This study will focus on children with more severe mastocytosis in an attempt to define its pathogenesis, focusing on mutations and polymorphisms in genes regulating mast cell proliferation and survival to determine if they might contribute to this disease pattern. If severe pediatric-onset disease does not fit within the existing classification, new criteria of diagnosis must be proposed for the pediatric age group.

This study will examine children and young adults age birth to 21 years with pediatric-onset disease previously enrolled on NIAID mastocytosis protocols, or as a result of physician referral, which have disease more consistent with adult-onset disease or parameters associated with increased morbidity. The evaluation may include serum tryptase, blood count, bone marrow biopsy and aspirate, morphology and mutational analysis. Subjects may be asked to return in 12-24 months for assessment. If relevant mutation effecting mast cell growth and function are identified, such mutations will be sought in the biologic parents as appropriate, but only when such mutations are believed to be germ line (not somatic) mutations. This study will aid in the understanding of the characteristics of severe mastocytosis in the pediatric age group.

Study Type

Observational

Enrollment (Actual)

103

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 21 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • INCLUSION CRITERIA:

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.

INCLUSION CRITERIA-SUBJECT:

  • 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

INCLUSION CRITERIA-RELATIVE:

  • 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

EXCLUSION CRITERIA SUBJECT:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 22, 2002

Study Completion

March 10, 2014

Study Registration Dates

First Submitted

November 25, 2002

First Submitted That Met QC Criteria

November 25, 2002

First Posted (Estimate)

November 26, 2002

Study Record Updates

Last Update Posted (Actual)

December 17, 2019

Last Update Submitted That Met QC Criteria

December 14, 2019

Last Verified

March 10, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 030041
  • 03-I-0041

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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