Screening for KIT D816V-mutated mast cell disease in selected groups

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a multicenter screening effort enrolling two targeted cohorts: people with suspected clonal mast cell activation (unexplained anaphylaxis or episodic symptoms across skin, respiratory, gastrointestinal, or cardiovascular systems) and people with hypermobile Ehlers–Danlos spectrum disorders or postural orthostatic tachycardia syndrome. Participants provide blood or other clinical samples for sensitive molecular testing to detect the KIT D816V mutation. The study characterizes the prevalence of the mutation in these selected populations and links mutation status with clinical presentation. Findings are intended to inform diagnostic pathways and potential referral for mutation-directed care.

Why it matters

Who can join: the full rules

Key Inclusion Criteria:

* Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:

  1\. SMAC-A
* 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 2. SMAC-B
* 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:

  1. Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder.
  2. Postural orthostatic tachycardia syndrome with one or more systemic symptoms.
  3. 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".

Key Exclusion Criteria:

* Participants previously diagnosed with any of the following:

  1. Monoclonal mast cell activation syndrome with a known KIT mutation
  2. Any subtype of systemic mastocytosis
  3. 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.

Where it's running

• AllerVie Clinical Research
  Birmingham, Alabama, United States Recruiting
• O'Neal Comprehensive Cancer Center at the UAB
  Birmingham, Alabama, United States Recruiting
• Orso Health
  Scottsdale, Arizona, United States Recruiting
• Arizona Respiratory Center
  Tucson, Arizona, United States Recruiting
• Orso Health
  La Jolla, California, United States Recruiting
• Kaiser Permanente San Diego
  San Diego, California, United States Recruiting

Study contacts

• Study coordinator: Blueprint Medicines
• Email: medinfo@blueprintmedicines.com
• Phone: +1-888-258-7768

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.