ADPKD
Conditions
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.
Interventions
None listed
Sponsors
Children's Hospital of Philadelphia
National Institutes of Health (NIH)
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Database registry | up to 10 years | 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. |
Countries
United States
Contacts
CONTACTJasmine Jaber, MS
PRINCIPAL_INVESTIGATORLisa Guay-Woodford, MD
Children's Hospital of Philadelphia
Outcome results
None listed