Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations

Conditions

• Clonal Mast Cell Disease
• KIT D816V Mutation
• Suspected KITD816V Mutated Clonal Mast Cell Disease

Eligibility Criteria

Sex

ALL

Age

18 Years - N/A

Healthy Volunteers

Not accepted

Interventions

• Screening — OTHER
  After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.

Study Details

This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.

Key Dates

First listed

Aug 27, 2025

Start date

Oct 17, 2025

Status verified

Oct 2026

Primary completion

Jul 31, 2028

Completion

Oct 31, 2028

Study Design

Enrollment

750 participants (estimated)

Arms

• Arm: Cohort 1
  Participants with symptoms of mast cell activation
• Arm: Cohort 2
  Participants with select diseases with suspected clonal mast cell involvement
• Arm: Cohort 3
  Participants with chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified (MDS/MPN-NOS)
• Arm: Cohort 4
  Participants with cutaneous mast cell involvement

Primary Outcome Measure

Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR) [ Time Frame: Day 1 ]

Central Contacts

• Blueprint Medicines
  +1-888-258-7768
  [email protected]
• Blueprint Medicines, EU Contact
  +31 85 064 4001
  [email protected]

Locations (25)

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