Autosomal Dominant Polycystic Kidney Disease (ADPKD) Study

NCT04338048 | Recruiting

• 1 other identifier: 23-021496
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 4

Brief Summary

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.

Conditions

ADPKD

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• National Institutes of Health (NIH): collaborator

Study Sites (4)

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

RECRUITING

Mayo Clinic

Rochester, Minnesota, 55902, United States

RECRUITING

Cohen Children's Medical Center

New Hyde Park, New York, 11042, United States

ENROLLING BY INVITATION

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19146, United States

RECRUITING

Related Links

• Related Info

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 Officials

• Lisa Guay-Woodford, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jasmine Jaber, MS

CONTACT

267-425-5325; jaberj2@chop.edu

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 2, 2020
• First Posted: April 8, 2020
• Study Start: October 10, 2019
• Primary Completion (Estimated): October 30, 2030
• Study Completion (Estimated): October 30, 2030
• Last Updated: June 13, 2025

Record last verified: 2025-06

Locations

US (4)