Ignite Creation Date:
2025-12-24 @ 3:50 PM
Ignite Modification Date:
2026-01-02 @ 5:28 AM
Study NCT ID:
NCT05124392
Status:
RECRUITING
Last Update Posted:
2025-11-24
First Post:
2021-10-27
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Biomarker Profiling in Individuals at Risk for Prion Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D034062', 'term': 'Insomnia, Fatal Familial'}, {'id': 'D017096', 'term': 'Prion Diseases'}], 'ancestors': [{'id': 'D002494', 'term': 'Central Nervous System Infections'}, {'id': 'D007239', 'term': 'Infections'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D007319', 'term': 'Sleep Initiation and Maintenance Disorders'}, {'id': 'D020919', 'term': 'Sleep Disorders, Intrinsic'}, {'id': 'D020920', 'term': 'Dyssomnias'}, {'id': 'D012893', 'term': 'Sleep Wake Disorders'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood and Cerebral Spinal Fluid for biomarker quantification'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'targetDuration': '8 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-12-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2027-06-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-11-19', 'studyFirstSubmitDate': '2021-10-27', 'studyFirstSubmitQcDate': '2021-11-15', 'lastUpdatePostDateStruct': {'date': '2025-11-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2021-11-18', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-06-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'CSF YKL40', 'timeFrame': '1 year', 'description': 'Levels of YKL40'}, {'measure': 'CSF Tau', 'timeFrame': '1 year', 'description': 'Levels of Tau'}, {'measure': 'CSF Nfl', 'timeFrame': '1 year', 'description': 'Levels of Nfl'}, {'measure': 'CSF GFAP', 'timeFrame': '1 year', 'description': 'Levels of GFAP'}, {'measure': 'CSF Prion protein', 'timeFrame': '1 year', 'description': 'Levels of Prion protein'}, {'measure': 'CSF Prion biomarkers', 'timeFrame': '1 year', 'description': 'RT-QuIC levels'}, {'measure': 'Cognition', 'timeFrame': '1 year', 'description': 'NIH Toolbox measures of cognition'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['CJD (Creutzfeldt Jakob Disease)', 'Prion Diseases', 'GSS', 'FFI', 'Familial Fatal Insomnia']}, 'referencesModule': {'references': [{'pmid': '38896810', 'type': 'DERIVED', 'citation': 'Vallabh SM, Mortberg MA, Allen SW, Kupferschmid AC, Kivisakk P, Hammerschlag BL, Bolling A, Trombetta BA, Devitte-McKee K, Ford AM, Sather LE, Duffy G, Rivera A, Gerber J, McManus AJ, Minikel EV, Arnold SE. Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion. Neurology. 2024 Jul 23;103(2):e209506. doi: 10.1212/WNL.0000000000209506. Epub 2024 Jun 19.'}]}, 'descriptionModule': {'briefSummary': 'We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials.', 'detailedDescription': 'This study aims to measure biomarkers longitudinally in individuals at risk of developing genetic prion disease to identify clinical assays and molecular markers that: can inform our understanding of pre-clinical pathology, predict timing of disease onset in pre-symptomatic individuals, and enable development and evaluation of novel treatment efficacy in pre-symptomatic or early symptomatic individuals.\n\nParticipation in the study involves annual visits to the clinic site in Charlestown, MA. Study visits include: a medical exam, blood draws, cognitive tests and questionnaires, spinal fluid collection, and (optional) MRI.\n\nTravel support and stipend is provided for interested individuals.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '85 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '100 people ages 18-85 with history of genetic prion disease and 50 non-carrier healthy controls', 'healthyVolunteers': True, 'eligibilityCriteria': "Inclusion Criteria:\n\n1. 1\\. Aged 18 - 85,\n2. One of the following:\n\n 1. Known carrier of pathogenic PRNP mutation\n 2. History of probable or definite prion disease in biological parent and other family members\n 3. Non-carrier family members and/or unrelated previously enrolled negative control volunteers\n3. Medically safe to undergo blood draw, lumbar puncture and cognitive testing,\n4. Adequate visual and auditory acuity to complete cognitive testing,\n5. Fluent in English,\n6. At least 5 years of education,\n7. Capable of providing informed consent and following study procedures,\n8. No contraindications to MRI scanning as determined via the Martinos Center MRI Screening process (for PRNP mutation carriers ONLY)\n\nExclusion Criteria:\n\n1. Any CNS disease other than asymptomatic or early prion disease, such as clinical stroke, brain tumor, multiple sclerosis, significant head trauma with persistent neurological or neurocognitive deficits, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration or other known neurodegenerative disease,\n2. History of alcohol or other substance abuse or dependence within the past two years,\n3. Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,\n4. Coagulopathy or anti-coagulant therapy (such as Coumadin) increasing the risk for phlebotomy or lumbar puncture resulting in PT/PTT and INR within 1.5 standard deviation over the upper normal limit."}, 'identificationModule': {'nctId': 'NCT05124392', 'briefTitle': 'Biomarker Profiling in Individuals at Risk for Prion Disease', 'organization': {'class': 'OTHER', 'fullName': 'Massachusetts General Hospital'}, 'officialTitle': 'Biomarker Profiling in Individuals at Risk for Prion Disease', 'orgStudyIdInfo': {'id': '2017P000214'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Individuals with a family history of Prion disease', 'description': 'Individuals with a family history of Prion disease'}]}, 'contactsLocationsModule': {'locations': [{'zip': '02129', 'city': 'Charlestown', 'state': 'Massachusetts', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jessica Gerber', 'role': 'CONTACT', 'email': 'jgerber2@mgh.harvard.edu', 'phone': '617-724-1992'}, {'name': 'Kayla McEachern', 'role': 'CONTACT', 'email': 'kmceachern2@mgh.harvard.edu', 'phone': '(617) 643-5265'}, {'name': 'Steven E Arnold, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Alzheimer's Clinical and Translational Research Unit", 'geoPoint': {'lat': 42.37787, 'lon': -71.062}}], 'centralContacts': [{'name': 'Bianca Marino', 'role': 'CONTACT', 'email': 'bmarino2@mgh.harvard.edu', 'phone': '(617) 643-7960'}, {'name': 'Alison McManus, DNP', 'role': 'CONTACT', 'email': 'ajmcmanus@mgh.harvard.edu'}], 'overallOfficials': [{'name': 'Steven E Arnold, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'MGH'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'No plan'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Massachusetts General Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Broad Institute of MIT and Harvard', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor of Neurology', 'investigatorFullName': 'Steven E Arnold, MD', 'investigatorAffiliation': 'Massachusetts General Hospital'}}}}