MastocytosisNCT00044122
Study of Factors Regulating Mast Cell Proliferation
An observational study of Mastocytosis and Monoclonal, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain. Read more about this study
- Who is it for?
- Ages 1 day to 80 years
- Conditions the study is for
- Mastocytosis, Monoclonal, Bone Marrow
- How many people
- 700 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Sep 2002to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: primary clinical
- PATIENT PARTICIPANT INCLUSION CRITERIA:
Participants with mastocytosis zero to 80 years of age may participate in telehealth visits, and two to 80 years of age may participate on-site at NIH Clinical Center
Histologic evidence of increased mast cell number by bone marrow and/or skin biopsy or documentation of mastocytosis in the skin
supported with a photograph of diagnostic skin lesions
Must be under the care of a primary care physician to be enrolled.
Ability to provide informed consent.
PATIENT PARTICIPANT EXCLUSION CRITERIA:
Anemia with hemoglobin < 8 g/dL, hematocrit < 24.
Any condition that in the opinion of the investigator contraindicates participation in this study.
RELATIVE INCLUSION CRITERIA:
Two to 80 years of age.
A biological relative without the diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy
Participant has a primary medical care provider outside the NIH
Ability to provide informed consent.
RELATIVE EXCLUSION CRITERIA:
Any condition that in the opinion of the investigator contraindicates participation in this study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells
This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain.
Patients up to 80 years of age with mastocytosis may be eligible for this 1-day study. Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo the following tests and procedures:
Read more
- Medical history and physical examination.
- Laboratory studies, if medically indicated.
- Blood tests to identify genetic changes important in the growth, development, and functioning of mast cells.
- 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 local anesthesia. Then, a special needle is inserted into the hipbone and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted into the same area to collect a small piece of the bone marrow. Additional procedures may include allergen testing, urinalysis, and 24-hour urine collection.
Participants will receive an evaluation of their mastocytosis.
Read the detailed description
This protocol is designed to examine those growth potentiating and inhibiting factors which regulate mast cell number and survival in patients with mastocytosis, and to explore the molecular basis of the disease process in hopes of improving therapy. Patients will carry the diagnosis of mastocytosis based on abnormal bone marrow biopsy and aspirate, abnormal skin biopsy, presence of urticaria pigmentosa, and if available, elevated serum tryptase level > 20 ng/ml and the presence of aberrant mast cell morphology and surface markers of CD2 and CD25. Mastocytosis patients will include children and adults from zero years to 80 years of age. Unaffected relatives (age 2 to 80 years) may also be enrolled. The protocol is designated for up to a 1-year enrollment period; with only a small number of enrolled patients that will stay on study for more than one visit, based on investigator assessment of contribution to study objectives. Participants will undergo standard physical exam, medical history review, and blood collection for clinical and research laboratory evaluations. We will collect clinical data and biological specimens for research evaluation from individuals undergoing clinically indicated diagnostic procedures. Some patients may participate in research evaluations including buccal swab collection, dietary intake assessment, stool collection, exercise challenge, microbiome studies, and activity tracking. These studies are optional. Patients may be asked to re-enter this protocol at a later time for further follow-up.
- Conditions
- Mastocytosis, Monoclonal, Bone Marrow, Tryptase
- Keywords
- Mastocytosis, Natural History
- Medical subject headings
- Mastocytosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Adult Relatives | Relatives of patient with mastocytosis | |
| Adults with Mastocytosis | Adults with documented mastocytosis | |
| Pediatric Patients with Mastocytosis | Pediatric patients with documented mastocytosis | |
| Pediatric Relatives | Pediatric relatives of patients with mastocytosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
To obtain normal and neoplastic human mast cells from the bone marrow and peripheral blood of patients with mastocytosis in order to study the regulation of the proliferation and survival of these cells, and to assess the extent and classificati...
continuing collection of cells from subjects with mastocytosis for ongoing experimentation in laboratory
Measured: Patients return to NIH as necessary
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Aug 2002 (estimated)
- Study start18 Sep 2002
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for MastocytosisStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 700 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Hirsh D Komarow, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00044122
- Sponsor's protocol ID
- 020277
- Other IDs
- 02-I-0277
- Status last verified
- 2 Sep 2026
- First submitted
- 17 Aug 2002
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Carter MC, Metcalfe DD, Komarow HD. Mastocytosis. Immunol Allergy Clin North Am. 2014 Feb;34(1):181-96. doi: 10.1016/j.iac.2013.09.001. Epub 2013 Oct 7.
PubMed 24262698Chan EC, Bai Y, Kirshenbaum AS, Fischer ER, Simakova O, Bandara G, Scott LM, Wisch LB, Cantave D, Carter MC, Lewis JC, Noel P, Maric I, Gilfillan AM, Metcalfe DD, Wilson TM. Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype. J Allergy Clin Immunol. 2014 Jul;134(1):178-87. doi: 10.1016/j.jaci.2013.12.1090. Epub 2014 Feb 28.
PubMed 24582309Cruse G, Metcalfe DD, Olivera A. Functional deregulation of KIT: link to mast cell proliferative diseases and other neoplasms. Immunol Allergy Clin North Am. 2014 May;34(2):219-37. doi: 10.1016/j.iac.2014.01.002. Epub 2014 Mar 12.
PubMed 24745671Ajao-Brunson OK, Lehembre-Shiah E, Naroji S, Nair LR, Zerk PE, Carter MC, Gomez-Lobo V. Vulvar Mastocytosis in Children and Adolescents: A Case Series. J Pediatr Adolesc Gynecol. 2026 Oct 15:S1083-3188(26)00513-9. doi: 10.1016/j.jpag.2026.10.006. Online ahead of print.
PubMed 42880402Krausfeldt LE, Cao V, Rodrigues R, Henderson WA, Eisch R, Scott LM, Metcalfe DD, Komarow HD. Evidence for dysbiosis in the gut microbiome of patients with systemic mastocytosis. J Allergy Clin Immunol Glob. 2025 Oct 9;5(1):100578. doi: 10.1016/j.jacig.2025.100578. eCollection 2026 Jan.
PubMed 41583012Wilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, Carter M, Maric D, Robyn J, Metcalfe DD. Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. Haematologica. 2011 Mar;96(3):459-63. doi: 10.3324/haematol.2010.031690. Epub 2010 Dec 6.
PubMed 21134978
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Regulation of the Proliferation and Survival of Normal and Neoplastic Human Mast Cells
- ClinicalTrials.gov ID
- NCT00044122
- Acronym / sponsor ID
- 020277
- Conditions
- Mastocytosis, Monoclonal, Bone Marrow, Tryptase
- Keywords
- Mastocytosis, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 700 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 18 Sep 2002 (actual)
- First posted
- 19 Aug 2002 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will examine growth factors that promote and inhibit mast cell proliferation resulting in mastocytosis, a disease of excessive mast cells in the body. These cells can release chemicals that cause itching, blisters, flushing, bone pain and abdominal pain.
Patients up to 80 years of age with mastocytosis may be eligible for this 1-day study. Participants will have one visit at NIH lasting up to 8 hours, during which they will undergo the following tests and procedures:
- Medical history and physical examination.
- Laboratory studies, if medically indicated.
- Blood tests to identify genetic changes important in the growth, development, and functioning of mast cells.
- 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 local anesthesia. Then, a special needle is inserted into the hipbone and about 1 tablespoon of bone marrow is drawn into a syringe. Another needle is inserted into the same area to collect a small piece of the bone marrow. Additional procedures may include allergen testing, urinalysis, and 24-hour urine collection.
Participants will receive an evaluation of their mastocytosis.
Detailed description
This protocol is designed to examine those growth potentiating and inhibiting factors which regulate mast cell number and survival in patients with mastocytosis, and to explore the molecular basis of the disease process in hopes of improving therapy. Patients will carry the diagnosis of mastocytosis based on abnormal bone marrow biopsy and aspirate, abnormal skin biopsy, presence of urticaria pigmentosa, and if available, elevated serum tryptase level > 20 ng/ml and the presence of aberrant mast cell morphology and surface markers of CD2 and CD25. Mastocytosis patients will include children and adults from zero years to 80 years of age. Unaffected relatives (age 2 to 80 years) may also be enrolled. The protocol is designated for up to a 1-year enrollment period; with only a small number of enrolled patients that will stay on study for more than one visit, based on investigator assessment of contribution to study objectives. Participants will undergo standard physical exam, medical history review, and blood collection for clinical and research laboratory evaluations. We will collect clinical data and biological specimens for research evaluation from individuals undergoing clinically indicated diagnostic procedures. Some patients may participate in research evaluations including buccal swab collection, dietary intake assessment, stool collection, exercise challenge, microbiome studies, and activity tracking. These studies are optional. Patients may be asked to re-enter this protocol at a later time for further follow-up.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Adult Relatives | – | –Relatives of patient with mastocytosis |
| Adults with Mastocytosis | – | –Adults with documented mastocytosis |
| Pediatric Patients with Mastocytosis | – | –Pediatric patients with documented mastocytosis |
| Pediatric Relatives | – | –Pediatric relatives of patients with mastocytosis |
Who may qualify
- Ages
- 1 day to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- primary clinical
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To obtain normal and neoplastic human mast cells from the bone marrow and peripheral blood of patients with mastocytosis in order to study the regulation of the proliferation and survival of these cells, and to assess the extent and classificati...
Time frame: Patients return to NIH as necessary
continuing collection of cells from subjects with mastocytosis for ongoing experimentation in laboratory
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- Background: PubMed 24262698Carter MC, Metcalfe DD, Komarow HD. Mastocytosis. Immunol Allergy Clin North Am. 2014 Feb;34(1):181-96. doi: 10.1016/j.iac.2013.09.001. Epub 2013 Oct 7.
- Background: PubMed 24582309Chan EC, Bai Y, Kirshenbaum AS, Fischer ER, Simakova O, Bandara G, Scott LM, Wisch LB, Cantave D, Carter MC, Lewis JC, Noel P, Maric I, Gilfillan AM, Metcalfe DD, Wilson TM. Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype. J Allergy Clin Immunol. 2014 Jul;134(1):178-87. doi: 10.1016/j.jaci.2013.12.1090. Epub 2014 Feb 28.
- Background: PubMed 24745671Cruse G, Metcalfe DD, Olivera A. Functional deregulation of KIT: link to mast cell proliferative diseases and other neoplasms. Immunol Allergy Clin North Am. 2014 May;34(2):219-37. doi: 10.1016/j.iac.2014.01.002. Epub 2014 Mar 12.
- Derived from this study: PubMed 42880402Ajao-Brunson OK, Lehembre-Shiah E, Naroji S, Nair LR, Zerk PE, Carter MC, Gomez-Lobo V. Vulvar Mastocytosis in Children and Adolescents: A Case Series. J Pediatr Adolesc Gynecol. 2026 Oct 15:S1083-3188(26)00513-9. doi: 10.1016/j.jpag.2026.10.006. Online ahead of print.
- Derived from this study: PubMed 41583012Krausfeldt LE, Cao V, Rodrigues R, Henderson WA, Eisch R, Scott LM, Metcalfe DD, Komarow HD. Evidence for dysbiosis in the gut microbiome of patients with systemic mastocytosis. J Allergy Clin Immunol Glob. 2025 Oct 9;5(1):100578. doi: 10.1016/j.jacig.2025.100578. eCollection 2026 Jan.
- Derived from this study: PubMed 21134978Wilson TM, Maric I, Simakova O, Bai Y, Chan EC, Olivares N, Carter M, Maric D, Robyn J, Metcalfe DD. Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis. Haematologica. 2011 Mar;96(3):459-63. doi: 10.3324/haematol.2010.031690. Epub 2010 Dec 6.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Hirsh D Komarow, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mastocytosis and Monoclonal, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Hye Jeong C Bolan, R.N. ((301) 594-1233, bolanhy@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To obtain normal and neoplastic human mast cells from the bone marrow and peripheral blood of patients with mastocytosis in order to study the regulation of the proliferation and survival of these cells, and to assess the extent and classificati... (time frame: Patients return to NIH as necessary). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00044122, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.