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 datashare@clinicalgenome.org.

For questions about the research study, call or email ClinGen at datashare@clinicalgenome.org 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.

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.

You may be eligible to participate if:

  • You are at least 18 years old
  • You have been diagnosed with CADASIL
  • You experience headaches

If you decide to participate in the research study, you will undergo a single blood test by a local lab and speak with a research coordinator on the phone.

Your participation in this study may not benefit you directly, but your contribution may further the understanding of the molecular causes for headache in patients with CADASIL. The more we learn about patients with both CADASIL and headache, the better able we will be to design future treatments for both conditions.

For Mayo Clinic in Florida, please contact Susan Melton at 904-953-8927 or Melton.Vickie@mayo.edu if you have any questions about this study.

For University of Utah, please contact Dr. Eric Goldstein if you are interested in enrolling in this study Eric.Goldstein@hsc.utah.edu

(Mentioned in CADASIL care webcast)
An observational research study at the University of California San Francisco is seeking participation by CADASIL patients. The study is being conducted by Drs. Joel Kramer and Fanny Elahi for the MarkVCID study, a longitudinal study developing novel neuroimaging and serological biomarkers 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 CADASIL diagnosis (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 on participation please contact:

Devyn.Cotter@ucsf.edu

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 elisa.ferrante@nih.gov to see if you are eligible to join.

CADASIL Disease Discovery Study

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
Phone: 734-845-5202
E-mail: micwang@umich.edu

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
Email: lutseph@ohsu.edu

Stephen Salloway, M.D., M.S.
Butler Hospital
Director of the Memory and Aging Program
Providence, RI 02906
Phone: 401-455-6403
E-mail: SSalloway@Butler.org

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.