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

September 7, 2026 updated by: Vertex Pharmaceuticals Incorporated

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

Status

Indicates the current recruitment status or the expanded access status.
Active, not recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
401

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

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

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Part A: Percentage of PKD1 Gene Variant Groups in the ADPKD Population
Time Frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
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
Time Frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
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
Time Frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
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
Time Frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
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
Time Frame: Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)
Genotyping Visit on Day 1 of Part A (Part A duration: 1 Calendar Day)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Vertex Pharmaceuticals Incorporated

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
December 19, 2024

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
December 31, 2026

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
December 31, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 10, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 17, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 24, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 9, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
September 7, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
September 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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/

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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