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

A Study to Determine the Prevalence and Clinical Characteristics Associated With PKD1 Gene Variant Groups in Autosomal Dominant Polycystic Kidney Disease (ADPKD)

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

Study Overview

• Status: Active, not recruiting
• Conditions: Autosomal Dominant Polycystic Kidney Disease (ADPKD)

• Study Type: Observational
• Enrollment (Actual): 401

Contacts and Locations

Study Locations

• Belgium
  • Brussels, Belgium
    • Universite Catholique de Louvain, Cliniques universitaires Saint-Luc (UCLouvain)
  • Leuven, Belgium
    • Universitaire Ziekenhuizen Leuven
• Canada
  • Hamilton, Canada
    • St. Joseph's Healthcare - Hamilton
  • Montreal, Canada
    • MUHC - Montreal Children's Hospital
• France
  • Brest, France
    • Hôpital de la Cavale blanche
  • Paris, France
    • Necker Hospital
• Germany
  • Berlin, Germany
    • Charité - Klinik für Nephrologie und Intensivmedizin der
  • Cologne, Germany
    • Universitaetsklinik Koeln Department II of Internal Medicine
• Netherlands
  • Groningen, Netherlands
    • UMCG - Nephrology
  • Rotterdam, Netherlands
    • Erasmus Medisch Centrum - Nephrology
• Puerto Rico
  • San Juan, Puerto Rico
    • FDI Clinical Research - San Juan
• Spain
  • Madrid, Spain
    • Hospital Fundacion Jimenez Diaz
• United Kingdom
  • Birmingham, United Kingdom
    • Queen Elizabeth Hospital Birmingham
  • London, United Kingdom
    • King's College Hospital
  • London, United Kingdom
    • St Georges University Hospitals NHS Foundation Trust
  • London, United Kingdom
    • Royal Free Hospital - Nephrology
  • Newcastle upon Tyne, United Kingdom
    • Newcastle upon Tyne Hospitals NHS Foundation Trust - Freeman Hospital - Nephrology
  • Sheffield, United Kingdom
    • Northern General Hospital
• United States
  • Alabama
    • Alabaster, Alabama, United States, 35007
      • Alabama Kidney Research
    • Birmingham, Alabama, United States, 35294
      • University of Alabama at Birmingham- Nephrology Research Clinic
  • California
    • Los Angeles, California, United States, 90027
      • Kaiser Permanente - Los Angeles Medical Center
    • Los Angeles, California, United States, 90095
      • UCLA Division of Nephrology
    • San Francisco, California, United States, 94143
      • Helen Diller Medical Center at Parnassus Heights
  • Connecticut
    • Middlebury, Connecticut, United States, 06762
      • Nephrology & Hypertension Associates, PC
    • New Haven, Connecticut, United States, 06510
      • Yale Nephrology Clinical Research Clinic
  • Florida
    • Inverness, Florida, United States, 34452
      • Nature Coast Clinical Research - Inverness
    • Jacksonville, Florida, United States, 32224
      • Mayo Clinic - Jacksonville
  • Georgia
    • Atlanta, Georgia, United States, 30308
      • Emory School of Medicine - Renal Division
    • Columbus, Georgia, United States, 31904
      • Renal Associates, LLC
  • Illinois
    • Chicago, Illinois, United States, 60637
      • UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa Health Care Medical Center- Nephrology
  • Kansas
    • Kansas City, Kansas, United States, 66160
      • University of Kansas Medical Center
  • Maryland
    • Baltimore, Maryland, United States, 21201
      • General Clinical Research Center, University of Maryland Baltimore
  • Massachusetts
    • Boston, Massachusetts, United States, 02111
      • Tufts Medical Center
    • Boston, Massachusetts, United States, 02215
      • Beth Israel Deaconess Medical Center - Nephrology
  • Michigan
    • Farmington Hills, Michigan, United States, 48334
      • Quest Research Institute
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
      • University of Minnesota -Health Clinical Research Unit
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic - Rochester
  • Nevada
    • Las Vegas, Nevada, United States, 89107
      • DaVita Clinical Research
  • New York
    • New York, New York, United States, 10032
      • Columbia University Medical Center
  • Pennsylvania
    • Danville, Pennsylvania, United States, 17822
      • Geisinger Clinic
    • Philadelphia, Pennsylvania, United States, 19104
      • Perelman Center for Advanced Medicine - Nephrology
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Nephrology Clinical Trials Center
  • Vermont
    • Burlington, Vermont, United States, 05401
      • UVM Medical Center - 1 South Prospect Street
  • Washington
    • Seattle, Washington, United States, 98104
      • Swedish Center for Comprehensive Care

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Part A: Male and female participants aged 12 to 65 years old, inclusive, diagnosed with ADPKD who have not reached end stage kidney disease (ESKD). Part B: Male and female participants aged 12 to 65 years old, inclusive, who have completed Part A and who have genotyping results confirming an eligible non-truncating variant in PKD1 and who are at risk for rapidly progressive disease, based upon historical total kidney volume (TKV) or kidney length.

Description

Key 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

Key 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 Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population	Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Weight of Participants Within Each PKD1 Gene Variant Group	Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Height of Participants Within Each PKD1 Gene Variant Group	Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Body Mass Index (BMI) of Participants Within Each PKD1 Gene Variant Group	Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Part A: Age of Participants at ADPKD Diagnosis Within Each PKD1 Gene Variant Group	Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)

Collaborators and Investigators

• Sponsor: Vertex Pharmaceuticals Incorporated

Study record dates

Study Major Dates

• Study Start (Actual): December 19, 2024
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: December 10, 2024
• First Submitted That Met QC Criteria: December 17, 2024
• First Posted (Actual): December 24, 2024

Study Record Updates

• Last Update Posted (Actual): September 9, 2026
• Last Update Submitted That Met QC Criteria: September 7, 2026
• Last Verified: September 1, 2026

More Information

Terms related to this study

• Keywords: ADPKD
• Additional Relevant MeSH Terms: Ciliopathies; Urogenital Diseases; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genetic Diseases, Inborn; Congenital Abnormalities; Abnormalities, Multiple; Kidney Diseases, Cystic; Polycystic Kidney Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Polycystic Kidney, Autosomal Dominant
• Other Study ID Numbers: VX24-KDO-901; NL88429.078.24 (Registry Identifier: Overview of Medical Research in the Netherlands (OMON))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Details on Vertex data sharing criteria and process for requesting access can be found at: https://www.vrtx.com/our-science/clinical-trials-data-sharing/