A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 750
- 试验地点
- 23
- 主要终点
- Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Ultra-sensitive KIT D816V by Super Rolling Circle Amplification (superRCA) Assay
研究概览
简要总结
This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:
- •Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or
- •History of at least one event of anaphylaxis as determined by the Investigator's clinical assessment and judgment based on available medical history, clinical presentation, and supporting documentation without a clearly identifiable trigger(s) or allergen(s) (otherwise idiopathic anaphylaxis) OR
- •SMAC-AGS: History of anaphylaxis after eating mammalian meat (e.g. pork, beef) AND history of elevated alpha-gal (galactose-alpha 1, 3 galactose) serum IgE as determined by the Investigator's clinical assessment and supporting medical history documentation
- •Episodic or recurrent signs and symptoms consistent with mast cell activation without known triggers or allergens in at least 2 of the following organ systems: skin, respiratory/naso-ocular, gastrointestinal tract, or cardiovascular.
- •Any clinical response on one or more optimally dosed therapies intended to mitigate mast cell mediators, as determined by the Investigator.
- •Cohort 2 participants must have confirmed, known diagnosis of 1 of the following criteria:
- •Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder.
- •Postural orthostatic tachycardia syndrome with one or more systemic symptoms.
- •Early onset (≤50 years old) osteoporosis or osteopenia.
- •Cohort 3 participants must have documented diagnosis of 1 of the following, according to World Health Organization 5th edition criteria: chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified.
- •Cohort 4 participants must have documented diagnosis of Mastocytosis in the Skin (MIS) with previously undetected KIT D816V mutation in peripheral blood (PB) or bone marrow (BM) OR Diagnosed cutaneous mastocytosis or physical examination findings indicative of "cutaneous mastocytosis".
排除标准
- •Participants previously diagnosed with any of the following:
- •Monoclonal mast cell activation syndrome with a known KIT mutation
- •Any subtype of systemic mastocytosis
- •Mast cell sarcoma
- •Cohort 2 only: Osteopenia or osteoporosis attributed to known genetic, endocrine, nutritional, or other medical conditions.
- •Note: Additional protocol-defined criteria apply.
研究组 & 干预措施
Cohort 4
Participants with cutaneous mast cell involvement
干预措施: Screening (Other)
Cohort 1
Participants with symptoms of mast cell activation
干预措施: Screening (Other)
Cohort 3
Participants with chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified (MDS/MPN-NOS)
干预措施: Screening (Other)
Cohort 2
Participants with select diseases with suspected clonal mast cell involvement
干预措施: Screening (Other)
结局指标
主要结局
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Ultra-sensitive KIT D816V by Super Rolling Circle Amplification (superRCA) Assay
时间窗: Day 1
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR)
时间窗: Day 1
Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Ultra-sensitive KIT D816V by Rolling Circle Amplification (RCA) Assay
时间窗: Day 1
次要结局
未报告次要终点