Children’s National Medical Center has established a NIDDK-funded interdisciplinary center of excellence in PKD-related research, with specific emphasis on ARPKD. Core A: Hepato/Renal Fibrocystic Disease Translational Resource, is a Core resource designed to develop a unique set of clinical, genetic, and educational resources for autosomal recessive polycystic kidney disease (ARPKD and other recessive forms of renal cystic disease).Summary of the Core A Translational Resource (PDF)
IMPORTANT: If PDF forms download doesn't work, please call Ms. Jasmine Jaber at 202-476-2838 or Email at [email protected]
If you are the parent of a child with ARPKD and you would like to enroll your child in the study, please take the following steps:
Resource for physicians seeking to learn more about the study:
Core A has partnered with the University of Alabama at Birmingham (UAB) Tissue Procurement Resource to develop a companion Tissue Repository for ARPKD and other hepato-renal fibrocystic diseases.
For patients/families interested in contributing tissues to this Core A Tissue Resource, please contact Jasmine Jaber ([email protected]) 202-476-2838. She will answer general questions; arrange to have a mailer with all the tissue sample collection materials and instructions sent to your physicians; as well as provide contact information for the UAB Tissue Procurement Resource.
Please note: this tissue collection effort is related to, but independent of, the Core A Clinical Database and participation in one does not obligate participation in the other. Core A is facilitating access to this additional resource. The consenting process will use the UAB Informed Consent/Assent forms and be handled by the UAB Tissue Procurement personnel.
Core A will perform genetic studies to identify disease-causing mutations in patients with ARPKD and other hepato-renal fibrocystic diseases. These studies require DNA samples from patients and their parents.
For patients/families interested in participating in these genetic studies, please contact Jasmine Jaber ([email protected]) 202-476-2838. She will discuss with you the consent process for collecting blood samples to obtain DNA. We will send a mailer with a blood collection kit to your physician. In addition, we will collect your contact information using the online survey.
Please note: these genetic studies are related to, but independent of, the Core A Clinical Database and participation in one does not obligate participation in the other.