Ignite Creation Date:
2025-12-24 @ 10:52 PM
Ignite Modification Date:
2025-12-25 @ 8:21 PM
Study NCT ID:
NCT07143669
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-08-27
First Post:
2025-08-20
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008415', 'term': 'Mastocytosis'}, {'id': 'D015477', 'term': 'Leukemia, Myelomonocytic, Chronic'}, {'id': 'D054972', 'term': 'Postural Orthostatic Tachycardia Syndrome'}], 'ancestors': [{'id': 'D009372', 'term': 'Neoplasms, Connective Tissue'}, {'id': 'D018204', 'term': 'Neoplasms, Connective and Soft Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D000090362', 'term': 'Mast Cell Activation Disorders'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D007951', 'term': 'Leukemia, Myeloid'}, {'id': 'D007938', 'term': 'Leukemia'}, {'id': 'D054437', 'term': 'Myelodysplastic-Myeloproliferative Diseases'}, {'id': 'D001855', 'term': 'Bone Marrow Diseases'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D002908', 'term': 'Chronic Disease'}, {'id': 'D020969', 'term': 'Disease Attributes'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D054971', 'term': 'Orthostatic Intolerance'}, {'id': 'D054969', 'term': 'Primary Dysautonomias'}, {'id': 'D001342', 'term': 'Autonomic Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D008403', 'term': 'Mass Screening'}], 'ancestors': [{'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D006306', 'term': 'Health Surveys'}, {'id': 'D011795', 'term': 'Surveys and Questionnaires'}, {'id': 'D003625', 'term': 'Data Collection'}, {'id': 'D004812', 'term': 'Epidemiologic Methods'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D017531', 'term': 'Health Care Evaluation Mechanisms'}, {'id': 'D011787', 'term': 'Quality of Health Care'}, {'id': 'D017530', 'term': 'Health Care Quality, Access, and Evaluation'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}, {'id': 'D015980', 'term': 'Public Health Practice'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood, Serum, Tissue'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 450}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-09-30', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-08', 'completionDateStruct': {'date': '2028-10-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-08-20', 'studyFirstSubmitDate': '2025-08-20', 'studyFirstSubmitQcDate': '2025-08-20', 'lastUpdatePostDateStruct': {'date': '2025-08-27', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-08-27', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2028-07-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': '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'}, {'measure': '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'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Mast Cell Activation Disorder', 'MDS/MPN Overlap Syndrome', 'Chronic Myelomonocytic Leukemia', 'Hypermobility Syndrome Disorder', 'Postural Orthostatic Tachycardia Syndrome', 'Early Onset Osteoporosis'], 'conditions': ['Clonal Mast Cell Disease', 'KIT D816V Mutation', 'Suspected KITD816V Mutated Clonal Mast Cell Disease']}, 'descriptionModule': {'briefSummary': 'This is a multicenter screening study to characterize the prevalence of the KIT D816V mutation in participants with suspected clonal mast cell disease.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Adult participants with suspected clonal mast cell disease', 'healthyVolunteers': False, 'eligibilityCriteria': 'Key Inclusion Criteria:\n\n* Cohort 1 participants must meet inclusion criteria for either SMAC-A or SMAC-B:\n\n 1\\. SMAC-A\n* Documented anaphylaxis due to Hymenoptera venom with cardiovascular symptoms or\n* Documented anaphylaxis without known trigger(s) or allergen(s) warranting hospitalization, emergency room visit, and/or epinephrine with cardiovascular symptoms 2. SMAC-B\n* 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.\n* Any clinical response on one or more optimally dosed therapies intended to mitigate mast cell mediators, as determined by the Investigator.\n* Cohort 2 participants must have confirmed, known diagnosis of 1 of the following criteria:\n\n 1. Either hypermobile Ehlers-Danlos syndrome or documented history of hypermobility spectrum disorder.\n 2. Postural orthostatic tachycardia syndrome with one or more systemic symptoms.\n 3. Early onset (≤50 years old) osteoporosis or osteopenia.\n* 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.\n\nKey Exclusion Criteria:\n\n* Participants previously diagnosed with any of the following:\n\n 1. Monoclonal mast cell activation syndrome with a known KIT mutation\n 2. Cutaneous mastocytosis only (that is, no documentation of systemic mast cell disease via bone marrow biopsy)\n 3. Any subtype of systemic mastocytosis\n 4. Mast cell sarcoma\n* Cohort 2 only: Osteopenia or osteoporosis attributed to known genetic, endocrine, nutritional, or other medical conditions.\n\nNote: Additional protocol-defined criteria apply.'}, 'identificationModule': {'nctId': 'NCT07143669', 'briefTitle': 'Screening Study for KIT D816V Mutated Mast Cell Disease in Select Populations', 'organization': {'class': 'INDUSTRY', 'fullName': 'Blueprint Medicines Corporation'}, 'officialTitle': 'A Multicenter Screening Study to Characterize the Prevalence of the KIT D816V Mutation in Patients With Suspected Clonal Mast Cell Disease', 'orgStudyIdInfo': {'id': 'BLU-MCAD-1101'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Cohort 1', 'description': 'Participants with symptoms of mast cell activation (SMAC).', 'interventionNames': ['Other: Screening']}, {'label': 'Cohort 2', 'description': 'Participants with select diseases with suspected clonal mast cell involvement.', 'interventionNames': ['Other: Screening']}, {'label': 'Cohort 3', 'description': 'Participants with chronic myelomonocytic leukemia or myelodysplastic syndrome/myeloproliferative neoplasm not otherwise specified.', 'interventionNames': ['Other: Screening']}], 'interventions': [{'name': 'Screening', 'type': 'OTHER', 'description': 'After providing informed consent and relevant medical history data, samples will be collected from participants with suspected clonal mast cell disease.', 'armGroupLabels': ['Cohort 1', 'Cohort 2', 'Cohort 3']}]}, 'contactsLocationsModule': {'centralContacts': [{'name': 'Blueprint Medicines', 'role': 'CONTACT', 'email': 'medinfo@blueprintmedicines.com', 'phone': '+1-888-258-7768'}, {'name': 'Blueprint Medicines, EU Contact', 'role': 'CONTACT', 'email': 'medinfoeurope@blueprintmedicines.com', 'phone': '+31 85 064 4001'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Blueprint Medicines Corporation', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}