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 range

18 Years

Sex

ALL

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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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

Who can participate

Age range

18 Years

Sex

ALL

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