MastocytosisNCT00047918
Blood Factors in Mastocytosis and Unexplained Anaphylaxis and Flushing
An observational study of Mastocytosis and Anaphylaxis, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
This study will 1) identify characteristics of bone marrow mast cells in patients with unexplained anaphylaxis and flushing or with mastocytosis and 2) determine whether mastocytosis might be the underlying cause of unexplained anaphylaxis in some patients with this condition. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mastocytosis, Anaphylaxis
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2002to Aug 2004
- Phase
- Observational
- Are there results?
- None posted in the registry
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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Age equal to or greater than 18 years.
- Diagnosis of mastocytosis established by presence of typical urticaria pigmentosa skin lesions or a bone marrow biopsy.
- Letter of referral from prospective study participant's local doctor.
- Ability to give informed consent.
- To have a first-degree relative accepted to the protocol as a patient with unexplained anaphylaxis, flushing or mastocytosis.
- Ability to give informed consent. For minors, ability of the parent to give informed consent.
- There are no age restrictions.
Who cannot join
- Age less than 18 years.
- Lack of a referral physician.
- Presence of co-morbid conditions which, in the judgment of the investigator or the referring physician, may put the patient at undue risk for travel (such as an acute infection, severe thrombocytopenia).
- Inability to provide informed consent.
- Inability or refusal to undergo a bone marrow biopsy and aspirate.
- Known allergy to latex or Lidocaine.
Show all 14Show fewer
- INCLUSION CRITERIA FOR PATIENTS WITH UNEXPLAINED FLUSHING OR ANAPHYLAXIS:
- Age equal to or greater than 18 years.
- Presence of flushing or anaphylaxis with negative workup for known causes such as carcinoid syndrome, pheochromocytoma, food allergy.
- Ability to give informed consent.
- EXCLUSION CRITERIA FOR PATIENTS WITH UNEXPLAINED FLUSHING OR ANAPHYLAXIS:
- Same as for patients with mastocytosis.
- Known cause for anaphylaxis or flushing.
- Frequent life-threatening anaphylactic episodes: History of 6 or more separate attacks resulting in ER visits in the 6 months preceding the referral.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda, Maryland, 20892
About this study
Official title: Investigation of Hematologic Parameters in Mastocytosis and Idiopathic Anaphylaxis
This study will 1) identify characteristics of bone marrow mast cells in patients with unexplained anaphylaxis and flushing or with mastocytosis and 2) determine whether mastocytosis might be the underlying cause of unexplained anaphylaxis in some patients with this condition. Anaphylaxis is a hypersensitivity reaction in which patients may have flushing, hives, stuffy nose, red itchy eyes, difficulty breathing, swelling of the tongue, throat, palms and soles, abdominal cramping, lightheadedness, decreased blood pressure, and loss of consciousness. Although allergens are a common cause of anaphylactic episodes, no cause can be identified in up to 50 percent of patients who have recurrent events. Mastocytosis is a disease of excessive mast cells in tissues such as skin and bone marrow. These cells can release chemicals that result in itching, blisters, flushing, bone pain, and abdominal pain.
Patients 18 years of age and older who have episodes of anaphylaxis or flushing with no apparent cause or who have mastocytosis may be eligible for this study. Participants will have a medical history and physical examination; blood tests 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 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.
Read more
Participants will return to NIH for reassessment of disease status in 12 to 18 months. The follow-up evaluation will include a history and physical examination, blood tests, possible repeat bone marrow and aspiration in patients whose clinical signs or symptoms change significantly, and other tests as clinically indicated.
First-degree relatives (parents, children, siblings) may be enrolled in limited instances to provide a blood sample for genetic analysis related to mast cell development and function for comparison with that of patients when they have similar symptoms.
Read the detailed description
Anaphylaxis is a severe systemic hypersensitivity reaction caused by release of mediators from mast cells and basophils. Signs and symptoms of anaphylaxis may include generalized flushing, hives, stuffy nose, red and itchy eyes, difficulty in breathing, swelling of the tongue, throat, palms and soles, gastrointestinal cramping, lightheadedness and loss of consciousness. Although most common causes of anaphylaxis include foods, drugs and stinging insects, a causative factor is not identified in up to 50% of the patients with recurrent anaphylactic episodes. Mast cells are important mediators of anaphylaxis. This study will examine the hypothesis that some patients with unexplained anaphylaxis may have systemic mastocytosis, a disorder of pathologic mast cell proliferation, as an underlying cause. In addition, it will investigate hematopoietic cells, which result in their tissue mast cells being more susceptible to degranulation. The study will enroll patients with mastocytosis with or without flushing or anaphylaxis, and patients with unexplained flushing or anaphylaxis. Patients will receive a clinical evaluation, blood tests and a bone marrow biopsy and aspirate. Research studies planned include flow cytometric analysis of blood and bone marrow cells, investigation of mutations or polymorphisms in genes involved in mast cell growth and differentiation, determination of surrogate disease markers and examination of mast cell growth and function. The study will improve the understanding of the mechanisms involved in anaphylactic reactions, which could in turn lead to development of strategies to better prevent or treat the episodes.
- Conditions
- Mastocytosis, Anaphylaxis
- Keywords
- Mast Cells, Bone Marrow, Flushing, Mutations, Mastocytosis, Anaphylaxis
- Medical subject headings
- Mastocytosis, Anaphylaxis, Flushing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Oct 2002 (estimated)
- Study startOct 2002
- Study completionAug 2004
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)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
- Enrolment
- 100 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00047918
- Sponsor's protocol ID
- 030010
- Other IDs
- 03-I-0010
- Status last verified
- Aug 2004
- First submitted
- 22 Oct 2002
- Last updated
- 4 Mar 2008
- Results posted
- No
Publications
Neugut AI, Ghatak AT, Miller RL. Anaphylaxis in the United States: an investigation into its epidemiology. Arch Intern Med. 2001 Jan 8;161(1):15-21. doi: 10.1001/archinte.161.1.15.
PubMed 11146694Akin C, Kirshenbaum AS, Semere T, Worobec AS, Scott LM, Metcalfe DD. Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. Exp Hematol. 2000 Feb;28(2):140-7. doi: 10.1016/s0301-472x(99)00145-9.
PubMed 10706069Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood. 2002 Jul 15;100(2):661-5. doi: 10.1182/blood-2002-01-0203.
PubMed 12091362
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2008. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of Hematologic Parameters in Mastocytosis and Idiopathic Anaphylaxis
- ClinicalTrials.gov ID
- NCT00047918
- Acronym / sponsor ID
- 030010
- Conditions
- Mastocytosis, Anaphylaxis
- Keywords
- Mast Cells, Bone Marrow, Flushing, Mutations, Mastocytosis, Anaphylaxis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- Oct 2002
- Study completion
- Aug 2004
- First posted
- 23 Oct 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 1) identify characteristics of bone marrow mast cells in patients with unexplained anaphylaxis and flushing or with mastocytosis and 2) determine whether mastocytosis might be the underlying cause of unexplained anaphylaxis in some patients with this condition. Anaphylaxis is a hypersensitivity reaction in which patients may have flushing, hives, stuffy nose, red itchy eyes, difficulty breathing, swelling of the tongue, throat, palms and soles, abdominal cramping, lightheadedness, decreased blood pressure, and loss of consciousness. Although allergens are a common cause of anaphylactic episodes, no cause can be identified in up to 50 percent of patients who have recurrent events. Mastocytosis is a disease of excessive mast cells in tissues such as skin and bone marrow. These cells can release chemicals that result in itching, blisters, flushing, bone pain, and abdominal pain.
Patients 18 years of age and older who have episodes of anaphylaxis or flushing with no apparent cause or who have mastocytosis may be eligible for this study. Participants will have a medical history and physical examination; blood tests 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 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 return to NIH for reassessment of disease status in 12 to 18 months. The follow-up evaluation will include a history and physical examination, blood tests, possible repeat bone marrow and aspiration in patients whose clinical signs or symptoms change significantly, and other tests as clinically indicated.
First-degree relatives (parents, children, siblings) may be enrolled in limited instances to provide a blood sample for genetic analysis related to mast cell development and function for comparison with that of patients when they have similar symptoms.
Detailed description
Anaphylaxis is a severe systemic hypersensitivity reaction caused by release of mediators from mast cells and basophils. Signs and symptoms of anaphylaxis may include generalized flushing, hives, stuffy nose, red and itchy eyes, difficulty in breathing, swelling of the tongue, throat, palms and soles, gastrointestinal cramping, lightheadedness and loss of consciousness. Although most common causes of anaphylaxis include foods, drugs and stinging insects, a causative factor is not identified in up to 50% of the patients with recurrent anaphylactic episodes. Mast cells are important mediators of anaphylaxis. This study will examine the hypothesis that some patients with unexplained anaphylaxis may have systemic mastocytosis, a disorder of pathologic mast cell proliferation, as an underlying cause. In addition, it will investigate hematopoietic cells, which result in their tissue mast cells being more susceptible to degranulation. The study will enroll patients with mastocytosis with or without flushing or anaphylaxis, and patients with unexplained flushing or anaphylaxis. Patients will receive a clinical evaluation, blood tests and a bone marrow biopsy and aspirate. Research studies planned include flow cytometric analysis of blood and bone marrow cells, investigation of mutations or polymorphisms in genes involved in mast cell growth and differentiation, determination of surrogate disease markers and examination of mast cell growth and function. The study will improve the understanding of the mechanisms involved in anaphylactic reactions, which could in turn lead to development of strategies to better prevent or treat the episodes.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- Age equal to or greater than 18 years.
- Diagnosis of mastocytosis established by presence of typical urticaria pigmentosa skin lesions or a bone marrow biopsy.
- Letter of referral from prospective study participant's local doctor.
- Ability to give informed consent.
- To have a first-degree relative accepted to the protocol as a patient with unexplained anaphylaxis, flushing or mastocytosis.
Key exclusion criteria (14 listed)
- Age less than 18 years.
- Lack of a referral physician.
- Presence of co-morbid conditions which, in the judgment of the investigator or the referring physician, may put the patient at undue risk for travel (such as an acute infection, severe thrombocytopenia).
- Inability to provide informed consent.
- Inability or refusal to undergo a bone marrow biopsy and aspirate.
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
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2008.
- Background: PubMed 11146694Neugut AI, Ghatak AT, Miller RL. Anaphylaxis in the United States: an investigation into its epidemiology. Arch Intern Med. 2001 Jan 8;161(1):15-21. doi: 10.1001/archinte.161.1.15.
- Background: PubMed 10706069Akin C, Kirshenbaum AS, Semere T, Worobec AS, Scott LM, Metcalfe DD. Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis. Exp Hematol. 2000 Feb;28(2):140-7. doi: 10.1016/s0301-472x(99)00145-9.
- Background: PubMed 12091362Yavuz AS, Lipsky PE, Yavuz S, Metcalfe DD, Akin C. Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood. 2002 Jul 15;100(2):661-5. doi: 10.1182/blood-2002-01-0203.
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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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 Anaphylaxis, 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?
The sponsor lists 7 inclusion and 14 exclusion criteria. 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: finished, as of the sponsor's last update on 4 Mar 2008. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00047918, which also lists 3 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 4 Mar 2008.