cureCADASIL has partnered with the National Organization for Rare Disorders (NORD®) to launch the CADASIL Community Natural History Study – a registry that will collect information from people affected by CADASIL and those at risk of developing CADASIL. The CADASIL Community Natural History Study replaces the CADASIL Family Registry, which was managed by Invitae, Inc. The CADASIL Community Natural History Study is owned by cureCADASIL on behalf of CADASIL patients.

Our goal is to provide a means to link different sources of data about the natural history of CADASIL to facilitate research and clinical trials of potential therapies.

Patient Registries
Patient registries are used across the healthcare space and allow researchers to standardize information collection. Our registry will be used to:

  • Create partnerships between patients, families, and investigators that encourage communications and education about CADASIL research.
  • Characterize the population affected by CADASIL, providing a better understanding of the disease burden and rate of progression of signs and symptoms over time.
  • Pave the way for therapeutic trials by helping researchers identify potential targets for treatment and design trials that are more likely to succeed.
  • Identify participants for upcoming research studies and clinical trials.

Data Overview
Data for the study will be collected on the IAMRARE® Platform, a secure web-based application, developed by NORD.® Study participants will respond to questions grouped within a series of surveys developed per study standards and in collaboration with CADASIL experts.

These questions are designed to provide information about CADASIL’s course of disease over time and include topics such as:

  • Socio-demographics
  • Medical history and diagnostics
  • Treatment and disease progression
  • Quality of life
  • Participation in CADASIL clinical studies

Participants
The study is open to anyone who has a CADASIL diagnosis, as well as anyone who might be at risk for CADASIL.

Even if you’ve completed a CADASIL natural history study previously, including cureCADASIL’s retired Family Registry, please join this new one!

Ready to begin? Gather your materials.
Here are some things to know before you start filling out the registry:

  • There are several sections in the registry. It should take approximately 30 minutes to complete the entire survey.
  • You can save your responses as you go, so you can step away from the registry and come back to it – though we’d appreciate it if you made sure to complete all the surveys.
  • You will receive periodic follow-ups for some sections of the registry, typically annually.
  • There are some materials to prepare before starting the registry. We recommend collecting these and having them on hand before you begin:

    1. The year you were first told you have CADASIL, if ever.
    2. The year you first experienced CADASIL symptoms, if any.
    3. The year and location (hospital/outpatient clinic) where most recent MRI and/or skin biopsy was done, if applicable.
    4. A list of medications (including vitamins and supplements) you currently take.
    5. We ask that you upload the report of your genetic blood test results, if you have one. If you don’t have a copy of the report, but can obtain it, then you can upload it after you receive it. Please complete the other parts of the survey in the meantime.