Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Study

Más betegség

• History of severe learning disability, intellectual disability, or other neurological disease or event not attributable to CADASIL
• History of serious alcohol or drug abuse within the past year

Egyéb

• Unwilling to undergo NOTCH3 genetic testing if there is no test on file

• Must be at least 18 years old
• Positive NOTCH3 genetic testing; OR a positive skin biopsy; OR a willingness to have a NOTCH3 genetic test completed prior to enrolling AND are at-risk for, or diagnosed clinically with, CADASIL
• Willing to commit to three in-person visits (a baseline visit, an 18-month follow-up, and a 36-month follow-up) and to remote visits as needed by phone, email, mail or internet
• Willing to provide documentation of all current medications to study team
  • All medications will be allowed throughout the course of study. Documentation of medications will be used for analyses to assess potential impact of medications on study outcomes.
• Willing and able to undergo an MRI scan and blood draw at each in-person visit
• Must have a designated "study companion"
  • A "study companion" is someone who knows the participant well (has greater than or equal to 3 hours/month of contact with the CADASIL participant) and can provide additional information to the study team (either remotely or in-person).
• A functional capacity less than 4 on the Modified Rankin Scale
• Must meet same criteria as CADASIL participants, EXCEPT have negative NOTCH3 genetic testing