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

NCT06747572 · tracked via the Priya Life Science UK tracker

Sponsor

Vertex Pharmaceuticals Incorporated

Phase

Observational

Started

2024-12-19

Last updated

2026-09-09

Condition(s) studied

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Study summary

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

Sex

ALL

Min age

12 Years

Max age

65 Years

Healthy volunteers

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.

Primary outcome measure(s)

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)

Trial sites (45)

Facility	City	Region
Alabama Kidney Research	Alabaster	Alabama
University of Alabama at Birmingham- Nephrology Research Clinic	Birmingham	Alabama
Kaiser Permanente - Los Angeles Medical Center	Los Angeles	California
UCLA Division of Nephrology	Los Angeles	California
Helen Diller Medical Center at Parnassus Heights	San Francisco	California
Nephrology & Hypertension Associates, PC	Middlebury	Connecticut
Yale Nephrology Clinical Research Clinic	New Haven	Connecticut
Nature Coast Clinical Research - Inverness	Inverness	Florida
Mayo Clinic - Jacksonville	Jacksonville	Florida
Emory School of Medicine - Renal Division	Atlanta	Georgia
Renal Associates, LLC	Columbus	Georgia
UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology	Chicago	Illinois
University of Iowa Health Care Medical Center- Nephrology	Iowa City	Iowa
University of Kansas Medical Center	Kansas City	Kansas
General Clinical Research Center, University of Maryland Baltimore	Baltimore	Maryland
Tufts Medical Center	Boston	Massachusetts
Beth Israel Deaconess Medical Center - Nephrology	Boston	Massachusetts
Quest Research Institute	Farmington Hills	Michigan
University of Minnesota -Health Clinical Research Unit	Minneapolis	Minnesota
Mayo Clinic - Rochester	Rochester	Minnesota
DaVita Clinical Research	Las Vegas	Nevada
Columbia University Medical Center	New York	New York
Geisinger Clinic	Danville	Pennsylvania
Perelman Center for Advanced Medicine - Nephrology	Philadelphia	Pennsylvania
Nephrology Clinical Trials Center	Nashville	Tennessee
UVM Medical Center - 1 South Prospect Street	Burlington	Vermont
Swedish Center for Comprehensive Care	Seattle	Washington
Universite Catholique de Louvain, Cliniques universitaires Saint-Luc (UCLouvain)	Brussels	Belgium
Universitaire Ziekenhuizen Leuven	Leuven	Belgium
St. Joseph's Healthcare - Hamilton	Hamilton	Canada
MUHC - Montreal Children's Hospital	Montreal	Canada
Hopital de la Cavale Blanche	Brest	France
Necker Hospital	Paris	France
Charité - Klinik für Nephrologie und Intensivmedizin der	Berlin	Germany
Universitaetsklinik Koeln Department II of Internal Medicine	Cologne	Germany
UMCG - Nephrology	Groningen	Netherlands
Erasmus Medisch Centrum - Nephrology	Rotterdam	Netherlands
FDI Clinical Research - San Juan	San Juan	Puerto Rico
Hospital Fundacion Jimenez Diaz	Madrid	Spain
Queen Elizabeth Hospital Birmingham	Birmingham	United Kingdom

+ 5 more sites — see the full list on the official registry below.

More Vertex Pharmaceuticals Incorporated trials in the UK

Evaluation of VX-121/Tezacaftor/Deutivacaftor in Cystic Fibrosis (CF) Participants 1 Through 11 Years of Age Active, not recruiting

A Study Evaluating the Long-term Safety and Efficacy of VX-121 Combination Therapy Active, not recruiting

A Phase 1/2 Study of VX-522 in Participants With Cystic Fibrosis (CF) Active, not recruiting

Evaluation of Efficacy and Safety of VX-993 for Pain Associated With Diabetic Peripheral Neuropathy Recruiting

Evaluation of Long-term Safety and Efficacy of ELX/TEZ/IVA in Cystic Fibrosis Participants 12 Months of Age and Older Active, not recruiting

Other trials for the same condition

Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW) Active, not recruiting

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06747572 on ClinicalTrials.gov ↗ ← All trials in the UK