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

NCT06747572 | Active Not Recruiting

• 2 other identifiers: VX24-KDO-901NL88429.078.24
• Study Type: observational
• Target: 401
• Locations: 9 countries
• Sites: 45

Brief 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.

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Keywords

ADPKD

Outcome Measures

Primary Outcomes (5)

• 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)

Study Arms (2)

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.

Eligibility Criteria

• Age: 12 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Vertex Pharmaceuticals Incorporated: lead

Study Sites (45)

Alabama Kidney Research

Alabaster, Alabama, 35007, United States

Location

University of Alabama at Birmingham- Nephrology Research Clinic

Birmingham, Alabama, 35294, United States

Location

Kaiser Permanente - Los Angeles Medical Center

Los Angeles, California, 90027, United States

Location

UCLA Division of Nephrology

Los Angeles, California, 90095, United States

Location

Helen Diller Medical Center at Parnassus Heights

San Francisco, California, 94143, United States

Location

Nephrology & Hypertension Associates, PC

Middlebury, Connecticut, 06762, United States

Location

Yale Nephrology Clinical Research Clinic

New Haven, Connecticut, 06510, United States

Location

Nature Coast Clinical Research - Inverness

Inverness, Florida, 34452, United States

Location

Mayo Clinic - Jacksonville

Jacksonville, Florida, 32224, United States

Location

Emory School of Medicine - Renal Division

Atlanta, Georgia, 30308, United States

Location

Renal Associates, LLC

Columbus, Georgia, 31904, United States

Location

UChicago Medicine - Duchossois Center for Advanced Medicine - Nephrology

Chicago, Illinois, 60637, United States

Location

University of Iowa Health Care Medical Center- Nephrology

Iowa City, Iowa, 52242, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

General Clinical Research Center, University of Maryland Baltimore

Baltimore, Maryland, 21201, United States

Location

Tufts Medical Center

Boston, Massachusetts, 02111, United States

Location

Beth Israel Deaconess Medical Center - Nephrology

Boston, Massachusetts, 02215, United States

Location

Quest Research Institute

Farmington Hills, Michigan, 48334, United States

Location

University of Minnesota -Health Clinical Research Unit

Minneapolis, Minnesota, 55455, United States

Location

Mayo Clinic - Rochester

Rochester, Minnesota, 55905, United States

Location

DaVita Clinical Research

Las Vegas, Nevada, 89107, United States

Location

Columbia University Medical Center

New York, New York, 10032, United States

Location

Geisinger Clinic

Danville, Pennsylvania, 17822, United States

Location

Perelman Center for Advanced Medicine - Nephrology

Philadelphia, Pennsylvania, 19104, United States

Location

Nephrology Clinical Trials Center

Nashville, Tennessee, 37232, United States

Location

UVM Medical Center - 1 South Prospect Street

Burlington, Vermont, 05401, United States

Location

Swedish Center for Comprehensive Care

Seattle, Washington, 98104, United States

Location

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

Brussels, Belgium

Location

Universitaire Ziekenhuizen Leuven

Leuven, Belgium

Location

St. Joseph's Healthcare - Hamilton

Hamilton, Canada

Location

MUHC - Montreal Children's Hospital

Montreal, Canada

Location

Hopital de la Cavale Blanche

Brest, France

Location

Necker Hospital

Paris, France

Location

Charité - Klinik für Nephrologie und Intensivmedizin der

Berlin, Germany

Location

Universitaetsklinik Koeln Department II of Internal Medicine

Cologne, Germany

Location

UMCG - Nephrology

Groningen, Netherlands

Location

Erasmus Medisch Centrum - Nephrology

Rotterdam, Netherlands

Location

FDI Clinical Research - San Juan

San Juan, Puerto Rico

Location

Hospital Fundacion Jimenez Diaz

Madrid, Spain

Location

Queen Elizabeth Hospital Birmingham

Birmingham, United Kingdom

Location

King's College Hospital

London, United Kingdom

Location

Royal Free NHS Trust

London, United Kingdom

Location

St Georges University Hospitals NHS Foundation Trust

London, United Kingdom

Location

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

Newcastle upon Tyne, United Kingdom

Location

Northern General Hospital

Sheffield, United Kingdom

Location

MeSH Terms

Conditions

Polycystic Kidney, Autosomal Dominant

Condition Hierarchy (Ancestors)

Polycystic Kidney Diseases; Kidney Diseases, Cystic; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ciliopathies; Genetic Diseases, Inborn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 10, 2024
• First Posted: December 24, 2024
• Study Start: December 19, 2024
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: July 21, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (27); NL (2); DE (2); CA (2); GB (6); PR (1); BE (2); ES (1); FR (2)