Study Evaluating the Prevalence of the KIT D816V Mutation in Peripheral Blood of Patients with Evidence of Systemic Mast Cell Activation (MCA)
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Rochester, Minnesota: 21-003756
Sponsor Protocol Number: 21-003756
About this study
The primary objective of this study is to determine the prevalence of KIT D816V mutation in peripheral blood (PB) of patients with evidence of systemic Mast Cell Activation (MCA).
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
- Written informed consent.
- Age ≥ 18 years.
- Presenting with at least one of the three criteria below as evidence of systemic MCA:
- Involvement of 2 or more organ systems, characterized by skin (pruritus, urticaria, flushing and angioedema), cardiovascular (tachycardia, syncope, and hypotension), gastrointestinal (diarrhea, nausea, vomiting, and gastrointestinal cramping) or respiratory/naso-ocular (wheezing, conjunctival injection, and nasal stuffiness) AND sBT levels ≥ 8 ng/ml. One of the organ systems must be the cardiovascular system;
- Involvement of 2 or more organ systems, characterized by skin (pruritus, urticaria, flushing, and angioedema), cardiovascular (tachycardia, syncope, and hypotension), gastrointestinal (diarrhea, nausea, vomiting, and gastrointestinal cramping) or respiratory/naso-ocular (wheezing, conjunctival injection, and nasal stuffiness) AND sBT levels ≥ 8 ng/ml. One of the organ systems must be the cardiovascular system;
- Severe anaphylaxis (Ring and Messmer grading ≥ II) due to Hymenoptera sting, regardless of sBT levels;
- Severe anaphylaxis (Ring and Messmer grading ≥ II), with cardiovascular involvement and documented event-related tryptase elevation fitting the formula 20% of baseline plus 2 ng/ml evaluated in at least 1 event.
Exclusion Criteria:
- Patient diagnosed with any of the following WHO SM sub-classifications:
- Mastocytosis in the Skin (MIS; Adult CM);
- Indolent Systemic Mastocytosis (ISM);
- Smoldering Systemic Mastocytosis (SSM);
- SM-Associated Hematologic Neoplasm (SM-AHN);
- Aggressive Systemic Mastocytosis (ASM);
- MC Leukemia (MCL);
- MC Sarcoma (MCS).
Eligibility last updated 5/13/22. Questions regarding updates should be directed to the study team contact.
Participating Mayo Clinic locations
Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.
| Mayo Clinic Location |
Status |
|
Rochester, Minn.
Mayo Clinic principal investigator Thanai Pongdee, M.D. |
Closed for enrollment |
|
More information
Publications
Publications are currently not available