Clinical trial · Observational
Molecular Mechanisms and Diagnosis of Mastocytosis
Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Mastocytosis | Mastocytosis | ONTOLOGY_EXACT | 0.98 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Collection of blood and bone marrow | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Participants evaluated for mastocytosis
- description
- Observational study of all patients referred for suspected mast cell disease. Collection of blood or bone marrow for analysis during diagnostic procedures.
- interventionNames
- Other: Collection of blood and bone marrow
Primary outcomes (1)
- measure
- Proportion of the patients with clonal and non-clonal mast cell disorders
- timeFrame
- 1 week
- description
- Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data
Secondary outcomes (1)
- measure
- Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells
- timeFrame
- 1 week
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Confirmed or suspected diagnosis of mastocytosis. * Ability to give informed consent (by the patient or legal guardian if minor) Exclusion Criteria: * Inability or not willing to provide informed consent.
References
Publications (3)
- BACKGROUNDAkin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. doi: 10.1159/000085563. PMID 15995326
- BACKGROUNDShah 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. PMID 16434489
- BACKGROUNDAkin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. doi: 10.1146/annurev.med.55.091902.103822. PMID 14746529