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Gene study aims to unlock secrets of kidney disease

NCT ID NCT06747572

Knowledge-focused Sponsor: Vertex Pharmaceuticals Incorporated Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Sep 10, 2026 · Updated 6 times

Summary

This study looks at 401 people with autosomal dominant polycystic kidney disease (ADPKD) to see how different versions of the PKD1 gene relate to patient traits like age at diagnosis and body size. Researchers are not testing any treatment—they are simply gathering information to better understand the disease. The goal is to estimate how common each gene variant group is and what clinical features go with them.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

401 people

The number who actually took part.

Started

Dec 2024

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

12 to 65 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

autosomal dominant polycystic kidney disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Autosomal dominant polycystic kidney disease (adpkd)

Contacts and locations

Locations

  • Alabama Kidney Research

    Alabaster, Alabama, 35007, United States

  • Beth Israel Deaconess Medical Center - Nephrology

    Boston, Massachusetts, 02215, United States

  • Charité - Klinik für Nephrologie und Intensivmedizin der

    Berlin, Germany

  • Columbia University Medical Center

    New York, New York, 10032, United States

  • DaVita Clinical Research

    Las Vegas, Nevada, 89107, United States

  • Emory School of Medicine - Renal Division

    Atlanta, Georgia, 30308, United States

  • Erasmus Medisch Centrum - Nephrology

    Rotterdam, Netherlands

  • FDI Clinical Research - San Juan

    San Juan, Puerto Rico

  • Geisinger Clinic

    Danville, Pennsylvania, 17822, United States

  • General Clinical Research Center, University of Maryland Baltimore

    Baltimore, Maryland, 21201, United States

  • Helen Diller Medical Center at Parnassus Heights

    San Francisco, California, 94143, United States

  • Hopital de la Cavale Blanche

    Brest, France

  • Hospital Fundacion Jimenez Diaz

    Madrid, Spain

  • Kaiser Permanente - Los Angeles Medical Center

    Los Angeles, California, 90027, United States

  • King's College Hospital

    London, United Kingdom

  • MUHC - Montreal Children's Hospital

    Montreal, Canada

  • Mayo Clinic - Jacksonville

    Jacksonville, Florida, 32224, United States

  • Mayo Clinic - Rochester

    Rochester, Minnesota, 55905, United States

  • Nature Coast Clinical Research - Inverness

    Inverness, Florida, 34452, United States

  • Necker Hospital

    Paris, France

  • Nephrology & Hypertension Associates, PC

    Middlebury, Connecticut, 06762, United States

  • Nephrology Clinical Trials Center

    Nashville, Tennessee, 37232, United States

  • Newcastle upon Tyne Hospitals NHS Foundation Trust - Freeman Hospital - Nephrology

    Newcastle upon Tyne, United Kingdom

  • Northern General Hospital

    Sheffield, United Kingdom

  • Perelman Center for Advanced Medicine - Nephrology

    Philadelphia, Pennsylvania, 19104, United States

  • Queen Elizabeth Hospital Birmingham

    Birmingham, United Kingdom

  • Quest Research Institute

    Farmington Hills, Michigan, 48334, United States

  • Renal Associates, LLC

    Columbus, Georgia, 31904, United States

  • Royal Free Hospital - Nephrology

    London, United Kingdom

  • St Georges University Hospitals NHS Foundation Trust

    London, United Kingdom

  • St. Joseph's Healthcare - Hamilton

    Hamilton, Canada

  • Swedish Center for Comprehensive Care

    Seattle, Washington, 98104, United States

  • Tufts Medical Center

    Boston, Massachusetts, 02111, United States

  • UCLA Division of Nephrology

    Los Angeles, California, 90095, United States

  • UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology

    Chicago, Illinois, 60637, United States

  • UMCG - Nephrology

    Groningen, Netherlands

  • UVM Medical Center - 1 South Prospect Street

    Burlington, Vermont, 05401, United States

  • Universitaetsklinik Koeln Department II of Internal Medicine

    Cologne, Germany

  • Universitaire Ziekenhuizen Leuven

    Leuven, Belgium

  • Universite Catholique de Louvain, Cliniques universitaires Saint-Luc (UCLouvain)

    Brussels, Belgium

  • University of Alabama at Birmingham- Nephrology Research Clinic

    Birmingham, Alabama, 35294, United States

  • University of Iowa Health Care Medical Center- Nephrology

    Iowa City, Iowa, 52242, United States

  • University of Kansas Medical Center

    Kansas City, Kansas, 66160, United States

  • University of Minnesota -Health Clinical Research Unit

    Minneapolis, Minnesota, 55455, United States

  • Yale Nephrology Clinical Research Clinic

    New Haven, Connecticut, 06510, United States

More trials for these conditions

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