RecruitingNot Applicable

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

United States450 participantsStarted 2025-10-17

Plain-language summary

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

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion 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.

Exclusion criteria

✕. Monoclonal mast cell activation syndrome with a known KIT mutation
✕. Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)
✕. Any subtype of systemic mastocytosis
✕. Mast cell sarcoma

What they're measuring

Proportion of Participants in Cohort 1 with KIT D816V Mutation in Peripheral Blood as Measured by Digital Droplet Polymerase Chain Reaction (ddPCR)

Timeframe: 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

Timeframe: Day 1

Trial details

NCT IDNCT07143669

SponsorBlueprint Medicines Corporation

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2028-07-31

Contact for this trial

Blueprint Medicines

+1-888-258-7768 medinfo@blueprintmedicines.com

View on ClinicalTrials.gov More Clonal Mast Cell Disease trials