UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients ("Core A: ARPKD Clinical and Genetic Resource", NCT00575705). However, 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. In the current competitively- renewed Center, we have expanded this Core resource to include other hepato/renal fibrocystic diseases.

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 hepato/renal fibrocystic diseases.
2. - Mutational Database:

   * Test children with ARPKD and other hepato/renal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato/renal fibrocystic diseases 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- Tissue Resource:
   * Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato/renal fibrocystic disease affected tissues for studies of these disorders.

     4- Educational Resource:
   * Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato/Renal Diseases families, their physicians, and genetic counselors.

For patients/families who are interested in the study and verbally or written agree to be contacted by the main site (CHOP), the study coordinators may send contact information of these potential participants to CHOP for screening and recruitment purposes. Any patients who verbally agree to be contacted will be documented by the study team, either in a log or note to file. If the participant verbally agrees to be contacted by CHOP, the study team will pass their contact information along to the CHOP study team, via secure email. The study team at CHOP will then personally reach out, recruit, and enroll the interested patients at other sites.

Email Recruitment:

The study team may recruit by sending an email blast with a flyer. The flyer will be for recruitment directly through CHOP or collaborating sites.

In-Person Consent Process:

Step 1: Recruitment of ARPKD/HRFD patients will occur based on provider referrals or participants directly contacting the study team from departments such as CHOP Nephrology, Dialysis, Transplant, and CHOP Nephrology/GI combined clinics. Potential participants will be approached over the phone or via email or in person. Prospective subjects expressing interest in participation will be approached by a study team member (PI or study coordinator) in person or by telephone to explain the study and will provide information regarding opportunities to participate in hepato-renal fibrocystic diseases research to patients. The participant will be informed that their decision to participate or not participate in a research study will not influence their clinical care.

Step 2: The participant/parent/legally authorized representative will complete their contact information and their physician contact information (via RedCap).

Step 3: The CHOP PI / Coordinator will obtain signed informed consent by participant/parent/legally authorized representative during site visit. The participant/parent/legally authorized representative will receive a copy of the signed consent in person Step 4: Once the research coordinator receives the signed copy of the Informed Consent and the physician's contact information, they will verify the contact information. The research staff enter clinical data into the Hepato-Renal Fibrocystic Diseases clinical database using the web-based data entry forms.

Verbal Consent Process:

Eligible participants will be contacted via telephone. They will be given ample time to discuss the study, ask questions, and consider participation. If the participant agrees to the optional genetic testing blood draw, written consent will be sought in person when the blood draw will happen. If in person written consent cannot be obtained, written consent will be obtained either through email, mail, or a REDCap econsent.

Eligibility Criteria:
Inclusion Criteria:

* Demonstration of hepato/renal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.

Exclusion Criteria:

* ADPKD Urinary tract malformations Major congenital anomalies of other systems