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

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

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This study is active but is not currently recruiting participants.

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Key information

Conditions

Autosomal Dominant Polycystic Kidney Disease (ADPKD) Abnormalities, Multiple Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Diseases Kidney Diseases, Cystic Male Urogenital Diseases Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Urogenital Diseases Urologic Diseases

Age range

12 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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)
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)
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)
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)
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)

Sponsors and collaborators

Lead sponsor

Vertex Pharmaceuticals Incorporated

Industry

Registry information

Official study title

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

Important dates

Study start: 2024
Primary completion: 2026
Study completion: 2026
First posted: Dec 24, 2024
Registry last updated: Jul 21, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting