Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
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| ClinicalTrials.gov Identifier: NCT04717427 |
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Recruitment Status :
Recruiting
First Posted : January 22, 2021
Last Update Posted : January 22, 2021
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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.
The research aims are:
- To integrate longitudinal clinical data, radiological data, and blood biomarkers of Sturge-Weber syndrome patients.
- Identify plasma and imaging biomarkers sensitive to exacerbation of clinical symptoms including seizures, headaches, or stroke-like episodes.
- For enrolled patients who present with severe neurological symptoms screen blood samples for inflammatory changes.
The 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.
| Condition or disease |
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| Sturge-Weber Syndrome |
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.
Aim 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.
Aim 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.
| Study Type : | Observational |
| Estimated Enrollment : | 250 participants |
| Observational Model: | Case-Only |
| Time Perspective: | Other |
| Official Title: | Integrated Longitudinal Studies to Identify Biomarkers and Therapeutic Strategies for Sturge-Weber Syndrome |
| Estimated Study Start Date : | January 2021 |
| Estimated Primary Completion Date : | June 30, 2024 |
| Estimated Study Completion Date : | June 30, 2024 |
- Natural history of disease progression. [ Time Frame: 4 years ]Integrative aspect that examines longitudinal associations of clinical symptoms, radiological disease progression, medical treatments, and blood biomarkers.
Biospecimen Retention: Samples With DNA
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
| Ages Eligible for Study: | Child, Adult, Older Adult |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Patients with MRI-documented unilateral or bilateral leptomeningeal angiomas with or without neurological symptoms including seizures, headaches, and stroke-like episodes
- Patients of any age
- Availability of longitudinal clinical and imaging data from all patient EHR records
- Consent to being followed prospectively throughout the course of the study
- Willing to provide blood samples
- Inclusion criteria to trigger entry into Aim 1B: severe seizures, headaches, or stroke-like episodes
Exclusion Criteria:
- Persons without physician diagnosed SWS
- Persons unwilling to sign informed consent
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04717427
| Contact: Jeffrey Loeb, M.D., Ph.D. | (312)-996-6496 | jaloeb@uic.edu |
| United States, California | |
| University of California San Francisco | Recruiting |
| San Francisco, California, United States, 94143 | |
| Contact: Yuanbo Holley 415-502-2151 yuanbo.holley@ucsf.edu | |
| Contact: Andres Alvarez Pinzon, Ph.D., M.D., M.H.A. Andres.AlvarezPinzon@ucsf.edu | |
| United States, Illinois | |
| University of Illinois At Chicago | Recruiting |
| Chicago, Illinois, United States, 60607 | |
| Contact: Jeffrey Loeb, MD, PhD 312-996-1757 | |
| Contact: Veronica Green, BSN, RN vgreen5@uic.edu | |
| United States, Maryland | |
| Kennedy Krieger Institute | Not yet recruiting |
| Baltimore, Maryland, United States, 21213 | |
| Contact: Pooja Vedmurthy 443-923-9569 | |
| Contact: Anne Comi, MD comi@kennedykrieger.org | |
| United States, Massachusetts | |
| Boston Children's Hospital | Not yet recruiting |
| Boston, Massachusetts, United States, 02115 | |
| Contact: Anna Pinto, MD, PhD 616-919-3499 Anna.Pinto@childrens.harvard.edu | |
| United States, Michigan | |
| Wayne State University | Recruiting |
| Detroit, Michigan, United States, 48202 | |
| Contact: Csaba Juhasz, M.D., Ph.D. 313-966-5136 csaba.juhasz@wayne.edu | |
| Contact: Aimee Luat, M.D. aluat@dmc.org | |
| United States, Ohio | |
| Cincinnati Children's Hospital | Recruiting |
| Cincinnati, Ohio, United States, 45229 | |
| Contact: Megan Metcalf 513-636-4266 Megan.Metcalf@cchmc.org | |
| Contact: Adrienne Hammill, M.D., Ph.D. Adrienne.Hammill@cchmc.org | |
| Nationwide Children's Hospital | Recruiting |
| Columbus, Ohio, United States, 43205 | |
| Contact: Ashley Falke 614-722-4625 Ashley.falke@nationwidechildrens.org | |
| Contact: Warren Lo, M.D. warren.lo@nationwidechildrens.org | |
| Responsible Party: | Jeffrey A Loeb, Professor, University of Illinois at Chicago |
| ClinicalTrials.gov Identifier: | NCT04717427 |
| Other Study ID Numbers: |
2020-1165 |
| First Posted: | January 22, 2021 Key Record Dates |
| Last Update Posted: | January 22, 2021 |
| Last Verified: | January 2021 |
| Studies a U.S. FDA-regulated Drug Product: | No |
| Studies a U.S. FDA-regulated Device Product: | No |
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Neoplasms, Vascular Tissue Neoplasms by Histologic Type Neoplasms Sturge-Weber Syndrome Brain Stem Infarctions Klippel-Trenaunay-Weber Syndrome Syndrome Disease Pathologic Processes Brain Infarction Brain Ischemia |
Cerebrovascular Disorders Brain Diseases Central Nervous System Diseases Nervous System Diseases Stroke Vascular Diseases Cardiovascular Diseases Angiomatosis Hemangioma Neurocutaneous Syndromes |