Autosomal Dominant Polycystic Kidney Disease (ADPKD) Study (ADPKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common genetic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the last decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at-risk for of ADPKD are lacking. Overall, there is insufficient data on the clinical course during childhood. The study intends to get more information on Autosomal Dominant Polycystic Kidney Disease (ADPKD) and other hepato/renal fibrocystic diseases. Additionally, the study intends to expand web-based resources so anyone can learn about ADPKD or other hepato/renal fibrocystic diseases. Individuals diagnosed with the dominant form of a hepato/renal fibrocystic condition are invited to be in the study.

Study Overview

• Status: Recruiting
• Conditions: ADPKD

Detailed Description

This study will ask the subject's permission to see past, current, and future medical information related to the disease. Some information that is collected, would be clinic notes, lab results, and physician consult reports. The subject will be asked to sign a release of medical information form to allow the study team access to medical information.This study does not require a clinic visit to the center.

When the research study receives the information, the research study team will be able to enter the medical data into the Hepato/Renal Fibrocystic Diseases clinical database.

There will be initial data entry in the database and follow up data entries lasting for the duration of this study or until the subject chooses to not participate in the study anymore. The study team will remove the subject's name or any other identifiable health information from the received records before entering medical data into the Hepato/Renal Fibrocystic Diseases clinical database.

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Jasmine Jaber, MS; Phone Number: 267-425-5325; Email: jaberj2@chop.edu

Study Locations

• United States
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20010
      • Recruiting
      • Children's National Hospital
      • Contact: Ashima Gulati; Phone Number: 240-531-6619; Email: agulati2@childrensnational.org
  • Minnesota
    • Rochester, Minnesota, United States, 55902
      • Recruiting
      • Mayo Clinic
      • Contact: Christian Hanna; Phone Number: 507-721-4136; Email: hanna.christian@mayo.edu
  • New York
    • New Hyde Park, New York, United States, 11042
      • Enrolling by invitation
      • Cohen Children's Medical Center
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19146
      • Recruiting
      • Children's Hospital of Philadelphia
      • Contact: Jasmine Jaber, MS; Phone Number: 267-425-5325; Email: jaberj2@chop.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 14 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients eligible are individuals diagnosed with ADPKD before the age of 18 years.

Description

Inclusion Criteria:

• Demonstration of ADPKD by clinical information, imaging studies, biopsy, autopsy, or genetic testing.

Exclusion Criteria:

• Patients with Autosomal Recessive Polycystic Kidney disease (ARPKD), urinary tract malformations or major congenital anomalies of other systems suggesting a diagnosis other than recessive hepato-renal fibrocystic diseases.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Database registry	Our research is designed to expand the currently limited knowledge about Autosomal Dominant Polycystic Kidney Diseases (ADPKD). Our specific goal is to create a registry of clinical information about this set of diseases. This study has two parts, the clinical database (medical health information) and the educational part. In this study we want to build a registry with information about ADPKD to learn more about this disease. There will be an optional urine and/or blood collection.	up to 10 years

Collaborators and Investigators

• Sponsor: Children's Hospital of Philadelphia
• Collaborators: National Institutes of Health (NIH)
• Investigators: Principal Investigator: Lisa Guay-Woodford, MD, Children's Hospital of Philadelphia

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): October 10, 2019
• Primary Completion (Estimated): October 30, 2030
• Study Completion (Estimated): October 30, 2030

Study Registration Dates

• First Submitted: January 2, 2020
• First Submitted That Met QC Criteria: April 4, 2020
• First Posted (Actual): April 8, 2020

Study Record Updates

• Last Update Posted (Actual): June 15, 2026
• Last Update Submitted That Met QC Criteria: June 12, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Ciliopathies; Urogenital Diseases; Male Urogenital Diseases; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genetic Diseases, Inborn; Congenital Abnormalities; Abnormalities, Multiple; Kidney Diseases, Cystic; Polycystic Kidney Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Polycystic Kidney, Autosomal Dominant
• Other Study ID Numbers: 23-021496

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No