Genetics of Brain Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease

Participate from home

ADPKD is the most common genetic form of kidney failure that can involve other organ systems. Dilatation of blood vessels in the brain called brain aneurysm is a prominent cause of neurological damage in ADPKD. Brain aneurysms also cluster in ADPKD families such that the risk is several times higher in the presence of an ADPKD family member with history of brain aneurysm. The goal of this study is to identify genetic defects associated with brain aneurysm formation in ADPKD.

 

Participant information

Inclusion criteria:

  • confirmed ADPKD
  • confirmed brain aneurysm
  • 18 years of age or older

Exclusion Criteria:

  • Individuals under age 18 will not be included
  • Individuals who cannot provide their own informed consent will not be included

 

Participation is possible by mail and telephone.

  • 10-15 minute phone interview to provide personal and family medical history. Staff might request permission to obtain past medical records.
  • Saliva or blood sample collection (completed locally and delivered to Yale Research Lab by FedEx—free of charge)

 

For more information, please complete this simple survey.  A member of the study team will contact you.  This survey link is HIPAA compliant.

Contact information at the University of Maryland:

Melissa Shaw, BS
Phone: 203 -737-8043
Email: melissa.m.shaw@yale.edu

Terry Watnick, MD
Phone: 410-706-5803
Email: twatnick@som.umaryland.edu