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Genetic Determinants of Aneurysms in Autosomal Dominant Polycystic Kidney Disease

  • Study HIC#:2000029350
  • Last Updated:07/15/2021

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and results in kidney failure from accumulation of fluid-filled cysts in the kidney. Families with ADPKD are also at higher risk for intracranial aneurysm (ICA), for reasons that are unknown. This risk runs in families. Our study aims to identify genetic similarities amongst those ADPKD families who also have intracranial aneurysms (ICA) in contrast to those don’t develop ICA. We are recruiting ADPKD patients who have had past or recent brain imaging that showed (or excluded) ICA.  

Participants must be 18 years of age. Participation requires a one-time blood sample for research genetic testing of DNA using whole exome sequencing.

  • Age18 years and older
  • GenderBoth
  • Start Date01/05/2021
  • End Date12/31/2022

Eligibility Criteria

Inclusion criteria:

  • Imaging (Ultrasound, CT Scan, or MRI) demonstrating ADPKD diagnosis.
  • Imaging (CT Scan, MRI, or MRA) confirming intracranial aneurysm diagnosis.
  • Ability to provide informed consent

Healthy volunteers without ADPKD are not eligible.

Principal Investigator

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