search
Back to results

Cause and Natural Course of Pediatric-Onset Mastocytosis

Primary Purpose

Mastocytosis

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Institute of Allergy and Infectious Diseases (NIAID)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Mastocytosis focused on measuring Children, Mast Cells, Urticaria Pigmentosa, Bone Marrow, Severe, Mastocytosis, Pediatric Mastocytosis

Eligibility Criteria

undefined - 21 Years (Child, Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • National Institutes of Health Clinical Center, 9000 Rockville Pike

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
November 25, 2002
Last Updated
December 14, 2019
Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
search

1. Study Identification

Unique Protocol Identification Number
NCT00050193
Brief Title
Cause and Natural Course of Pediatric-Onset Mastocytosis
Official Title
Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis
Study Type
Observational

2. Study Status

Record Verification Date
March 10, 2014
Overall Recruitment Status
Completed
Study Start Date
November 22, 2002 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
March 10, 2014 (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)

4. Oversight

5. Study Description

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. ...
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Mastocytosis
Keywords
Children, Mast Cells, Urticaria Pigmentosa, Bone Marrow, Severe, Mastocytosis, Pediatric Mastocytosis

7. Study Design

Enrollment
103 (Actual)

10. Eligibility

Sex
All
Maximum Age & Unit of Time
21 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Melody C Carter, M.D.
Organizational Affiliation
National Institute of Allergy and Infectious Diseases (NIAID)
Official's Role
Principal Investigator
Facility Information:
Facility Name
National Institutes of Health Clinical Center, 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States

12. IPD Sharing Statement

Citations:
PubMed Identifier
8092552
Citation
Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy. 1994 Sep;73(3):197-202; quiz 202-7.
Results Reference
background
PubMed Identifier
1370517
Citation
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.
Results Reference
background
PubMed Identifier
7507298
Citation
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.
Results Reference
background

Learn more about this trial

Cause and Natural Course of Pediatric-Onset Mastocytosis

We'll reach out to this number within 24 hrs