Clinical trial NCT04338048: Autosomal Dominant Polycystic Kidney Disease (ADPKD) Study
Official title: Autosomal Dominant Polycystic Kidney Disease (ADPKD) Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: ADPKD
Lead sponsor: Children's Hospital of Philadelphia
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
First posted: 2020-04-08
Enrollment: 300
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients eligible are individuals diagnosed with ADPKD before the age of 18 years.

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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Database registry
timeFrame: up to 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Washington
country: United States
facility: Children's National Hospital
state: District of Columbia
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: New Hyde Park
country: United States
facility: Cohen Children's Medical Center
state: New York
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: Children's Hospital of Philadelphia
name: Lisa Guay-Woodford, MD
role: PRINCIPAL_INVESTIGATOR
References: