Principal Investigator: Raoul  Nelson
Keywords: Renal , Fibrocystic , Clinical Trials , Pediatrics , Nephrology Department: Pediatric Administration
IRB Number: 00124267
Specialty: Pediatrics, General, Nephrology and Hypertension
Sub Specialties:
Recruitment Status: Recruiting

Contact Information

JoAnn Narus

Brief Summary

The National Institute of Diabetes and Digestive and Kidney Diseases (NIH/NIDDK) is sponsoring a Core Resource to capture clinical and mutational data for patients with ARPKD and other hepato-renal fibrocystic diseases (HRFD). 

Studies in the last several years have demonstrated that ARPKD and other single gene disorders characterized by renal cystic disease and extra-renal phenotypes share numerous pathogenic features.

The research is designed to expand the currently limited knowledge about Autosomal Recessive Polycystic Kidney Diseases (ARKPD) and other Hepato-Renal Fibrocystic Diseases (HRFD).  The specific goal is to create a registry of clinical and genetic information about this set of diseases.

This study has three parts, the clinical database (medical health information), the mutational database (genetic information) and the educational part.  In this study we want to build a registry with information about HRFD to learn more about these diseases.  We want to provide information about these diseases to families, physician and genetic counselors via the study website.

  1. Clinical Database:  Expand our comprehensive Clinical Data that includes information from all patients who meet the inclusion criteria for hepato-renal fibrocystic diseases.
  2. Mutational Database:  Test children and adults with ARPKD and other HRFDs to establish a patient DNA bank, identify mutations in known HRFD genes, and develop a Mutational Database.  This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies and clinical trials.
  3. Education Resource:  Expand our multi-media, web-based resource to provide a reliable, comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors.

Inclusion Criteria

  1. Demonstration of ARPKD or other hepato-renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.

Exclusion Criteria

  1. Patients with autosomal dominant polycystic kidney disease (ADPKD), urinary tract malformations or major congenital anomalies of other systems suggesting a diagnosis other than recessive hepato-renal fibrocystic diseases.