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

Purpose

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

Condition

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Eligibility

Eligible Ages
Between 12 Years and 65 Years
Eligible Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • Estimated glomerular filtration rate (eGFR) greater than or equal to (≥) 30 milliliter per minute (mL/min)/1.73 m^2 - Willing and able to comply with scheduled visits and other study procedures - A pre-existing diagnosis of ADPKD as defined in the protocol

Exclusion Criteria

  • History of kidney disease other than ADPKD that in the opinion of the investigator would independently impact the natural history of ADPKD - History of solid organ or bone marrow transplantation or nephrectomy - Ongoing renal replacement therapy or planning to start renal replacement therapy less than or equal to (≤)12 months from the Genotyping Visit in Part A Other protocol defined Inclusion/Exclusion criteria will apply.

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Arm Groups

ArmDescriptionAssigned Intervention
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.

Recruiting Locations

University of Kansas Medical Center
Kansas City 4273837, Kansas 4273857 66160

More Details

Status
Recruiting
Sponsor
Vertex Pharmaceuticals Incorporated

Study Contact

Medical Information
617-341-6777
medicalinfo@vrtx.com