Condition: Hepato/Renal Fibrocystic Disease · Autosomal Recessive Polycystic Kidney Disease · Joubert Syndrome · Sponsor: Children's Hospital of Philadelphia
Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease). The lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks. This study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website. Goals for the Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource are: 1. \- Clinical Database: • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for …
This description comes directly from the study's public registry record.
Jasmine Jaber · 267-425-5325 · jaberj2@chop.edu
Lisa M Guay-Woodford, MD · 267-425-0315 · guaywoodfl@chop.edu
Always discuss trial participation with your own doctor first.
| Children's National Hospital | Washington D.C., District of Columbia, United States | Recruiting |
| Emory | Atlanta, Georgia, United States | Recruiting |
| Boston Children's | Boston, Massachusetts, United States | Enrolling By Invitation |
| Cincinnati Children's | Cincinnati, Ohio, United States | Enrolling By Invitation |
| Children's Hospital of Philadelphia | Philadelphia, Pennsylvania, United States | Recruiting |
| University of Utah | Salt Lake City, Utah, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT01401998