Ignite Creation Date:
2025-12-25 @ 5:19 AM
Ignite Modification Date:
2025-12-26 @ 4:27 AM
Study NCT ID:
NCT04717427
Status:
RECRUITING
Last Update Posted:
2024-09-19
First Post:
2021-01-15
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D013341', 'term': 'Sturge-Weber Syndrome'}], 'ancestors': [{'id': 'D006391', 'term': 'Hemangioma'}, {'id': 'D009383', 'term': 'Neoplasms, Vascular Tissue'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D020752', 'term': 'Neurocutaneous Syndromes'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000798', 'term': 'Angiomatosis'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood sample'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 250}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-09-08', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-06', 'completionDateStruct': {'date': '2025-06-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-09-04', 'studyFirstSubmitDate': '2021-01-15', 'studyFirstSubmitQcDate': '2021-01-15', 'lastUpdatePostDateStruct': {'date': '2024-09-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-01-22', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-06-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Natural history of disease progression.', 'timeFrame': '4 years', 'description': 'Integrative aspect that examines longitudinal associations of clinical symptoms, radiological disease progression, medical treatments, and blood biomarkers.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Sturge-Weber Syndrome']}, 'descriptionModule': {'briefSummary': 'Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits. The purpose of this study is to integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.\n\nThe research aims are:\n\n1. To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.\n2. Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes.\n3. For enrolled patients who present with severe neurological symptoms screen blood samples for inflammatory changes.\n\nThe target enrollment for this study is about 250 individuals diagnosed with Sturge-Weber Syndrome. The goal of this study is to understand more about Sturge-Weber Syndrome, the possible treatments for this disease, and identify targets for clinical trials. Those participating in the database will be asked to consent to blood draws.', 'detailedDescription': 'Aim 1: Develop a longitudinal database of patients with SWS Clinical sites will collect longitudinal data retrospectively on measures of clinical symptoms and medications/treatments for study subjects who participated in the existing BVMC2/SWF registry and consent to participate in BVMC3 study. Retrospective data will be used to create a longitudinal dashboard where practitioners can identify predictors of atrisk patients who are most likely to have a serious neurological symptom and the current treatments. Prospective data collection: Clinical sites will collect longitudinal data prospectively for at-risk patients who present with a new, severe neurological symptom.\n\nAim 2: Examine longitudinal Quantitative MRI Baseline MRI datasets will be collected and Limited Data Sets (LDS) will be generated and uploaded to a central imaging database from all participating centers. Subsequent MRI scans will be collected for patients who experience acute exacerbation of clinical symptoms, including seizures, headaches, or stroke-like episodes. Integrated imaging data, detailed treatment data, and detailed clinical data including neurological symptoms, seizures, and headache history will be analyzed.\n\nAim 3: Collect and Store Blood Samples for Analysis All patients enrolled in BVMC3 study will have blood samples sent to and stored at University of California San Francisco (UCSF). Enrolled patients presenting with stroke-like episodes, stroke, headache, or seizure will have a second blood sample taken at the time of the neurologic symptom and a third sample taken 6 months later, or even later if symptoms have not resolved within 6 months. Multiplex angioma and inflammatory marker array will be assessed on all 3 samples from patients at the same time.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Assemble a cohort of 250 patients with standardized phenotyping/diagnosis to collect standardized longitudinal clinical and radiological data and obtain blood samples at enrollment. We anticipate 25% of 250 enrolled patients will have serious neurological symptoms.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with MRI-documented unilateral or bilateral leptomeningeal angiomas with or without neurological symptoms including seizures, headaches, and stroke-like episodes\n* Patients of any age\n* Availability of longitudinal clinical and imaging data from all patient EHR records\n* Consent to being followed prospectively throughout the course of the study\n* Willing to provide blood samples\n* Inclusion criteria to trigger entry into Aim 1B: severe seizures, headaches, or stroke-like episodes\n\nExclusion Criteria:\n\n* Persons without physician diagnosed SWS\n* Persons unwilling to sign informed consent'}, 'identificationModule': {'nctId': 'NCT04717427', 'briefTitle': 'Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'University of Illinois at Chicago'}, 'officialTitle': 'Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome', 'orgStudyIdInfo': {'id': '2020-1165'}}, 'contactsLocationsModule': {'locations': [{'zip': '94143', 'city': 'San Francisco', 'state': 'California', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ronan K Esperanza', 'role': 'CONTACT', 'email': 'Ronan.Esperanza@ucsf.edu', 'phone': '415-502-2151'}], 'facility': 'University of California San Francisco', 'geoPoint': {'lat': 37.77493, 'lon': -122.41942}}, {'zip': '60607', 'city': 'Chicago', 'state': 'Illinois', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Jeffrey Loeb, MD, PhD', 'role': 'CONTACT', 'phone': '312-996-1757'}, {'name': 'Luzy Rosales, MSN, RN', 'role': 'CONTACT', 'email': 'luzr@uic.edu', 'phone': '312-413-1882'}], 'facility': 'University of Illinois At Chicago', 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '21213', 'city': 'Baltimore', 'state': 'Maryland', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Kieran D McKenney', 'role': 'CONTACT', 'email': 'McKenneyK@Kennedykrieger.org', 'phone': '443-923-9569'}, {'name': 'Anne Comi, MD', 'role': 'CONTACT', 'email': 'comi@kennedykrieger.org'}], 'facility': 'Kennedy Krieger Institute', 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Anna Pinto, MD, PhD', 'role': 'CONTACT', 'email': 'Anna.Pinto@childrens.harvard.edu', 'phone': '616-919-3499'}, {'name': 'Bianca Booth', 'role': 'CONTACT', 'email': 'Bianca.Booth@childrens.harvard.edu'}], 'facility': 'Boston Children's Hospital', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '48202', 'city': 'Detroit', 'state': 'Michigan', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Csaba Juhasz, M.D., Ph.D.', 'role': 'CONTACT', 'email': 'csaba.juhasz@wayne.edu', 'phone': '313-966-5136'}, {'name': 'Aimee Luat, M.D.', 'role': 'CONTACT', 'email': 'aluat@dmc.org'}], 'facility': 'Wayne State University', 'geoPoint': {'lat': 42.33143, 'lon': -83.04575}}, {'zip': '87106', 'city': 'Albuquerque', 'state': 'New Mexico', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Dawn Aldridge', 'role': 'CONTACT', 'email': 'DAldridge@salud.unm.edu'}], 'facility': 'University of New Mexico', 'geoPoint': {'lat': 35.08449, 'lon': -106.65114}}, {'zip': '45229', 'city': 'Cincinnati', 'state': 'Ohio', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Megan Metcalf', 'role': 'CONTACT', 'email': 'Megan.Metcalf@cchmc.org', 'phone': '513-636-4266'}, {'name': 'Adrienne Hammill, M.D., Ph.D.', 'role': 'CONTACT', 'email': 'Adrienne.Hammill@cchmc.org'}], 'facility': "Cincinnati Children's Hospital", 'geoPoint': {'lat': 39.12711, 'lon': -84.51439}}, {'zip': '43205', 'city': 'Columbus', 'state': 'Ohio', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Ashley Falke', 'role': 'CONTACT', 'email': 'Ashley.falke@nationwidechildrens.org', 'phone': '614-722-4625'}, {'name': 'Warren Lo, M.D.', 'role': 'CONTACT', 'email': 'warren.lo@nationwidechildrens.org'}], 'facility': "Nationwide Children's Hospital", 'geoPoint': {'lat': 39.96118, 'lon': -82.99879}}], 'centralContacts': [{'name': 'Jeffrey Loeb, M.D., Ph.D.', 'role': 'CONTACT', 'email': 'jaloeb@uic.edu', 'phone': '(312)-996-6496'}], 'overallOfficials': [{'name': 'Jeffrey Loeb, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Illinois at Chicago'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Illinois at Chicago', 'class': 'OTHER'}, 'collaborators': [{'name': 'University of California, San Francisco', 'class': 'OTHER'}, {'name': 'Wayne State University', 'class': 'OTHER'}, {'name': 'Duke University', 'class': 'OTHER'}, {'name': 'Hugo W. Moser Research Institute at Kennedy Krieger, Inc.', 'class': 'OTHER'}, {'name': "Children's Hospital Medical Center, Cincinnati", 'class': 'OTHER'}, {'name': "Boston Children's Hospital", 'class': 'OTHER'}, {'name': "Nationwide Children's Hospital", 'class': 'OTHER'}, {'name': 'Sturge-Weber Foundation', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Jeffrey A Loeb', 'investigatorAffiliation': 'University of Illinois at Chicago'}}}}