Polycystic Kidney Disease 1 (PKD1) Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease

Multiple Locations

The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.

Sponsor: Vertex Pharmaceuticals Incorporated

Overview: The purpose of this study is to estimate the prevalence, demographic, and clinical characteristics of PKD1/2 gene variant groups in the ADPKD population.

Eligibility Criteria

  • Ages 12-65 years old
  • Pre-existing ADPKD diagnosis based on the defined criteria
  • Willing and able to comply with scheduled visits and other study procedures
  • Estimated glomerular filtration rate (eGFR) greater than or equal to 30 mL/min/1.73 m^2.
  • No history of kidney disease other than ADPKD
  • No history of solid organ or bone marrow transplantation or nephrectomy

Additional inclusion/exclusion criteria will apply.

Participation:

  • Part A: Eligible participants will complete a single visit to complete a blood sample collection for PKD1/2 genotyping.
  • Part B: Participants who have completed all assessments in Part A and have a subset of variants in PKD1 will complete 1 year of follow-up.

Contact

Name: Medical Information

Phone Number: 617-341-6777

Email: medicalinfo@vrtx.com

Locations:

  • Alabaster, Alabama, United States
  • Middlebury, Connecticut, United States
  • New Haven, Connecticut, United States
  • Inverness, Florida, United States
  • Columbus, Georgia, United States
  • Kansas City, Kansas, United States
  • Farmington Hills, United States
  • Las Vegas, Nevada, United States
  • San Juan, Puerto Rico