MastocytosisNCT00336076
Molecular Mechanisms and Diagnosis of Mastocytosis
An observational study of Mastocytosis, run by University of Michigan at 1 site in United States.
Trial summary
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs. It can affect both children and adults, males and females and individuals from all ethnic backgrounds, although precise demographic information about the affected populations is not… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Mastocytosis
- What is being tested?
- Collection of blood and bone marrow
- How many people
- 136 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2004to Jul 2009
- 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
Study population: Patients with confirmed or suspected mast cell disease
Who may be able to join
- Confirmed or suspected diagnosis of mastocytosis.
- Ability to give informed consent (by the patient or legal guardian if minor)
Who cannot join
- Inability or not willing to provide informed consent.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs. It can affect both children and adults, males and females and individuals from all ethnic backgrounds, although precise demographic information about the affected populations is not available as it is a rare disorder. Mastocytosis in children is generally limited to the skin and follows a self limited course, while it is a disorder of the hematopoietic stem cell associated with somatic mutations of the c-kit gene in most patients with adult-onset of disease. There is no known curative therapy for most patients with systemic mastocytosis. Recent research studies identified several subtypes of disease with distinct clinical and pathologic features, however, a precise understanding of the incidence as well as molecular pathology of different disease subtypes is lacking. This study aims to examine molecular and cellular pathological aspects of disease in patients with mastocytosis and correlate findings with clinical presentation and prognosis. Patients will undergo a routine history and physical examination, and diagnostic tests will be ordered as dictated by each patient's clinical presentation. Blood and bone marrow will be obtained for diagnostic and research purposes. Genetic analysis of the c-kit gene regulating mast cell growth and differentiation will be performed. It is hoped that findings obtained from this study will help to design novel therapies for mastocytosis and other disorders in which mast cells play a critical role.
- Conditions
- Mastocytosis
- Being tested
- Collection of blood and bone marrow
- Keywords
- Mast cell disease, Anaphylaxis, c-kit, Mutation, Mastocytosis (suspected or proven)
- Medical subject headings
- Mastocytosis, Mast Cell Activation Disorders, Anaphylaxis, Piebaldism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of blood and bone marrowOther
5-8 cc blood or bone marrow was additionally collected for analysis during diagnostic procedures. No assigned interventions.
| Study group | Role | What they receive |
|---|---|---|
| Participants evaluated for mastocytosis | Observational study of all patients referred for suspected mast cell disease. Collection of blood or bone marrow for analysis during diagnostic procedures. Receives: Other: Collection of blood and bone marrow |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of the patients with clonal and non-clonal mast cell disorders
Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data
Measured: 1 week
Secondary outcomes (1)
Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells
KIT D816V mutation was assessed in patient samples containing various proportions of neoplastic mast cells.
Measured: 1 week
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2006 (estimated)
- Study startJul 2004
- Primary completionDec 2008
- Study completionJul 2009
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 University of MichiganThe 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
- 136 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Michigan
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Cem Akin, University of Michigan
- Investigators
- Cem Akin, M.D., Ph.D., Principal investigator, University of Michigan
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00336076
- Sponsor's protocol ID
- 2004-0246
- Status last verified
- Nov 2016
- First submitted
- 8 Jun 2006
- Last updated
- 7 Nov 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. doi: 10.1159/000085563.
PubMed 15995326Shah NP, Lee FY, Luo R, Jiang Y, Donker M, Akin C. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood. 2006 Jul 1;108(1):286-91. doi: 10.1182/blood-2005-10-3969. Epub 2006 Jan 24.
PubMed 16434489Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. doi: 10.1146/annurev.med.55.091902.103822.
PubMed 14746529
Study at a glance
From the registry record, last updated by the sponsor on 7 Nov 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.
- ClinicalTrials.gov ID
- NCT00336076
- Acronym / sponsor ID
- 2004-0246
- Conditions
- Mastocytosis
- Keywords
- Mast cell disease, Anaphylaxis, c-kit, Mutation, Mastocytosis (suspected or proven)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 136 participants (actual)
- Lead sponsor
- University of MichiganUniversity, hospital or other
- Study start
- Jul 2004
- Primary completion
- Dec 2008 (actual)
- Study completion
- Jul 2009 (actual)
- First posted
- 12 Jun 2006 (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.
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs. It can affect both children and adults, males and females and individuals from all ethnic backgrounds, although precise demographic information about the affected populations is not available as it is a rare disorder. Mastocytosis in children is generally limited to the skin and follows a self limited course, while it is a disorder of the hematopoietic stem cell associated with somatic mutations of the c-kit gene in most patients with adult-onset of disease. There is no known curative therapy for most patients with systemic mastocytosis. Recent research studies identified several subtypes of disease with distinct clinical and pathologic features, however, a precise understanding of the incidence as well as molecular pathology of different disease subtypes is lacking. This study aims to examine molecular and cellular pathological aspects of disease in patients with mastocytosis and correlate findings with clinical presentation and prognosis. Patients will undergo a routine history and physical examination, and diagnostic tests will be ordered as dictated by each patient's clinical presentation. Blood and bone marrow will be obtained for diagnostic and research purposes. Genetic analysis of the c-kit gene regulating mast cell growth and differentiation will be performed. It is hoped that findings obtained from this study will help to design novel therapies for mastocytosis and other disorders in which mast cells play a critical role.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants evaluated for mastocytosis | – | Other: Collection of blood and bone marrowObservational study of all patients referred for suspected mast cell disease. Collection of blood or bone marrow for analysis during diagnostic procedures. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with confirmed or suspected mast cell disease
Key inclusion criteria (2 listed)
- Confirmed or suspected diagnosis of mastocytosis.
- Ability to give informed consent (by the patient or legal guardian if minor)
Key exclusion criteria (1 listed)
- Inability or not willing to provide informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Collection of blood and bone marrow5-8 cc blood or bone marrow was additionally collected for analysis during diagnostic procedures. No assigned interventions. | Other | Participants evaluated for mastocytosis |
Primary outcome
Proportion of the patients with clonal and non-clonal mast cell disorders
Time frame: 1 week
Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data
1 secondary outcome
Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells
Time frame: 1 week
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 7 Nov 2016.
- Background: PubMed 15995326Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. doi: 10.1159/000085563.
- Background: PubMed 16434489Shah NP, Lee FY, Luo R, Jiang Y, Donker M, Akin C. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood. 2006 Jul 1;108(1):286-91. doi: 10.1182/blood-2005-10-3969. Epub 2006 Jan 24.
- Background: PubMed 14746529Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. doi: 10.1146/annurev.med.55.091902.103822.
- 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. This study is not recruiting at the moment.
Cem Akin, M.D., Ph.D. principal investigator
University of Michigan
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, run by University of Michigan 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 2 inclusion and 1 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 7 Nov 2016. 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.
What does the primary outcome measure?
Proportion of the patients with clonal and non-clonal mast cell disorders (time frame: 1 week). 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 NCT00336076, 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 7 Nov 2016.