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Understanding gene variants in Polycystic Kidney Disease

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

Observational Vertex Pharmaceuticals Incorporated · NCT06747572

This study is trying to understand how different gene changes affect people with Autosomal Dominant Polycystic Kidney Disease and their kidney health.

Quick facts

Study typeObservational
Enrollment400 (estimated)
Ages12 Years to 65 Years
SexAll
SponsorVertex Pharmaceuticals Incorporated Industry-sponsored
Locations20 sites (Alabaster, Alabama and 19 other locations)
Trial IDNCT06747572 on ClinicalTrials.gov

What this trial studies

This observational study aims to estimate the prevalence and clinical characteristics of PKD1 and PKD2 gene variant groups in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). It will involve collecting demographic and clinical data from participants who have been diagnosed with ADPKD and meet specific eligibility criteria. The study will focus on individuals with a certain level of kidney function, as indicated by their estimated glomerular filtration rate (eGFR). By analyzing this data, researchers hope to gain insights into the genetic factors influencing ADPKD.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals diagnosed with ADPKD who have an eGFR of 30 mL/min/1.73 m² or higher.

Not a fit: Patients with other significant kidney diseases or those undergoing renal replacement therapy may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance understanding of the genetic underpinnings of ADPKD, leading to improved patient management and targeted therapies.

How similar studies have performed: While this study focuses on specific gene variants in ADPKD, similar studies have shown promise in understanding genetic contributions to kidney diseases.

Eligibility criteria

Show full inclusion / exclusion criteria 
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.

Where this trial is running

Alabaster, Alabama and 19 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Autosomal Dominant Polycystic Kidney Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.