Studies of the natural history of CADASIL are critical first steps necessary to design the clinical trials that will test the effectiveness of measures to prevent and treat CADASIL. These “Natural History Studies” help investigators know who should be enrolled in clinical trials, what measurements (or “biomarkers”) should be part of the trial, and what outcomes that are important to patients should be measured to see if the intervention works!
The CADASIL Consortium Study is a natural history study funded by the National Institutes of Health. It is being conducted at 12 sites in the US:
- Brown University, Providence
- Colombia University, New York
- Georgia State University, Atlanta
- Loyola University, Chicago
- Oregon Health and Science University, Portland
- University of California, Los Angeles
- University of California, San Francisco
- University of Colorado, Denver
- University of Texas Health Science Center, San Antonio
- University of Utah, Salt Lake City
- University of Washington, Seattle
- University of Wisconsin – Madison
The study asks participants to come to one of these sites for three in-person visits, at baseline, 18 months and 36 months. The visits take 4-6 hours, during which participants:
- have an interview about their health,
- take tests that will assess language, motor, and memory skills
- complete a neurological exam,
- have a brain MRI scan, and
- provide a blood sample.
Expenses are paid. The study is currently enrolling adults and their companions who have been tested for NOTCH 3 mutation. If you are interested in participating in this important study:
Email: INFO@CADASIL-CONSORTIUM.ORG or call toll free: 833-795-3016
Researchers at NHLBI, led by Dr. Manfred Boehm are recruiting for a recently funded Natural History of CADASIL study. This is an expansion of their previous CADASIL discovery study. They are continuing with the 20 previous participants and recruiting 80 additional CADASIL participants to learn more about how CADASIL affects a person’s blood vessels over time. Control subjects are also needed.
In order to be eligible to participate in this study, an individual must meet criteria 1 & 2 and either criteria 3 or 4:
- Stated willingness to comply with all study procedures and availability for the duration of the study.
- Male or female, aged 18 to 100 years (inclusive).
- Established diagnosis of CADASIL, as determined by genetic testing.
- Healthy controls.
Participants will have 4 study visits over 9 years. Visits will last 6 8 hours per day, for 2 4 days. Travel stipend available.
Contact: Katherine Carney firstname.lastname@example.org
Researchers at Mayo Clinic at Jacksonville, led by Dr. Michelle Lin, MD, MPH are recruiting for a prospective, observational nested pilot randomized controlled study to discover retinal biomarkers that would predict cerebral small vessel disease progression, and evaluate the safety/efficacy of cilostazol in slowing SVD progression. Twenty CADASIL patients are being recruited for this interventional drug trial. https://clinicaltrials.gov/ct2/show/NCT04753970
You may be eligible to participate if:
- You are at least 18 years old
- Confirmed or suspected diagnosis of CADASIL
- Age-matched healthy control (eg. CADASIL patient’s spouse or friend without small vessel disease of a similar age)
- Ability to travel to study location (no reimbursement available)
Participation requires a half day of testing and a follow-up visit with the same tests in 1 year apart. Study tests include MRI, blood draw, retinal imaging, cognitive testing, and physician visit.
For more information, please contact the study coordinator Ed Michel at 904-953-4519 or email@example.com.
CureCADASIL is collaborating with members of the Clinical Genome Resource (ClinGen) team to share genetic and health information from patients affected by CADASIL through the ClinGen Patient Data Sharing Program. This information will be collected through the CureCADASIL Family Registry.
Why is data sharing needed?
When a laboratory finds a genetic change (variant) for the first time, often little is known about it. Even if a genetic variant is well understood, data sharing helps increase understanding of a condition’s features, which may help identify possible interventions and treatments. The more information collected, the better researchers will understand how genes affect health and, ultimately, how best to care for patients.
Complete these 3 steps to participate:
1. Login to your account (or create an account if you have not) at: CureCADASIL Family Registry.
2. Review and complete the ClinGen Data Sharing Program informed consent.
3. Upload a copy of your genetic test report to your account, if you have not already. If you need help getting a copy of your genetic test, contact ClinGen at firstname.lastname@example.org.
For questions about the research study, call or email ClinGen at email@example.com or 570-214-1721 (toll free 855-322-7683)
Interested in learning more about the ClinGen Data Sharing Program? And how patients sharing their genetic test data is important to CADASIL? Watch a new CADASIL Care Webinar presented by Juliann Savatt, MS, LGC from the ClinGen team.
(Mentioned in CADASIL care webcast)
An observational research study led by Dr. Fanny Elahi, MD, PhD at the University of California San Francisco is seeking participation by CADASIL patients. The VascBrain study is a longitudinal study developing novel neuroimaging (images of the structure or activity of the brain) and serological biomarkers (obtained through analysis of bloodwork) to improve early detection and diagnosis of cerebrovascular disease. Annual participation requires 2 days of testing that do not have to be consecutive. Study tests include MRI, blood draw, retinal imaging, cognitive testing, and physician visit.
Participation requirements include:
- Confirmed or suspected diagnosis of CADASIL (by genetic test or skin biopsy)
- Ability to travel to study location (no reimbursement available)
- Ability to cooperate with and understand medical tests
- No pacemakers or metal implants
For additional information to join the study please contact Dr. Fanny Elahi (firstname.lastname@example.org).
cureCADASIL is aware of three CADASIL Tissue Banks in the US supported by brain and tissue donations by surviving families of CADASIL patients. For researchers interested in CADASIL tissue for research, please contact cureCADASIL for requests. For patients or families interested in donating a loved one’s brain or tissue for CADASIL research please contact one of the following:
Michael M. Wang M.D., Ph.D.
University of Michigan
Department of Neurology, Professor
Department of Molecular & Integrative Physiology, Professor
VA Hospital, Director of Neurology
VA Ann Arbor Healthcare System
Ann Arbor, MI 48109
Helmi L. Lutsep, M.D.
Oregon Health & Science University
Department of Neurology, Associate Director
Vice Chair and Dixon Term Professor
OHSU Stroke Center, Chief of Neurology,
VA Portland Health Care System
Portland, OR 97239-3098
Phone: 503 494-7225
Stephen Salloway, M.D., M.S.
Director of the Memory and Aging Program
Providence, RI 02906
Results are expected in 2021. Thank you for your participation.
Researchers at Mayo Clinic at Jacksonville and The University of Utah are searching for people who are affected by both CADASIL and headaches. The purpose of this research study is to further understand the cause of headaches in this serious and rare condition.
This study is sponsored by the NIH, National Heart, Lung, and Blood Institute (NHLBI). The study is currently recruiting and ongoing. Adults age 18 years and older can join. See more information at the link below and contact Elisa Ferrante, PhD at 301-451-3457 or email@example.com to see if you are eligible to join.
Understanding Clinical Trials
Although there are many definitions of clinical trials, they are generally considered to be biomedical or health-related research studies in human beings that follow a pre-defined protocol. ClinicalTrials.gov includes both interventional and observational types of studies globally. Interventional studies are those in which the research subjects are assigned by the investigator to a treatment or other intervention, and their outcomes are measured. Observational studies are those in which individuals are observed and their outcomes are measured by the investigators.
Participants in clinical trials can play a more active role in their own health care, gain access to new research treatments before they are widely available, and help others by contributing to medical research.
All clinical trials have guidelines about who can participate. Using inclusion/exclusion criteria is an important principle of medical research that helps to produce reliable results. The factors that allow someone to participate in a clinical trial are called “inclusion criteria” and those that disallow someone from participating are called “exclusion criteria”. These criteria are based on such factors as age, gender, the type and stage of a disease, previous treatment history, and other medical conditions. Before joining a clinical trial, a participant must qualify for the study. Some research studies seek participants with illnesses or conditions to be studied in the clinical trial, while others need healthy participants. It is important to note that inclusion and exclusion criteria are not used to reject people personally. Instead, the criteria are used to identify appropriate participants and keep them safe. The criteria help ensure that researchers will be able to answer the questions they plan to study.