Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

Trial Information

Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))

The entry portal for Core A is designed so that physicians who contact the CLIA-certified
UAB Medical Genomics Laboratory (MGL) requesting information about PKHD1 testing and any
patient/parent/legally authorized representative looking for information online about any of
the hepato-renal diseases included in this study will be directed to the UAB Hepato/Renal
Fibrocystic Disease Translational Resource website http://www.arpkdstudies.uab.edu/.

The Informed Consent for the Clinical Database and Information for the participant will be
posted on the website (http://www.arpkdstudies.uab.edu/) for review by potential
participants and follow-up discussions with the PI and/or Research Nurse Coordinator. In
addition, materials in paper format can be sent to interested potential participants upon
request.

Two key elements will be required for patient enrollment: 1) certification that informed
consent has been obtained, and 2) participant and physician contact information form
completed by the participant.

The UAB release of information form, information for the physician and instructions on how
to enter data will be posted in the website available to the physician.

This study does not provide free genetic testing. Clinical genetic testing is available via
UAB Medical Genomics Laboratory (CLIA and CAP approved) as a fee-for-service. In special
cases (eg. presenting at an older age, mainly with liver or pancreatic disease) contact Dr.
Guay-Woodford at lgw@uab.edu.

Once receipt of the requisite items is confirmed, the following actions will proceed:

1. Each participant will be assigned a unique code identifier in the database and a
clinician-specific web field will be opened for the participant identifier.

2. The participant/parents will confirm the name of their clinician to the database and
notify their physician and/or genetic counselor (clinicians) of their intent to
participate in this study.

3. The clinician will access the Physician Link on the website and follow the instructions
about how to post data to the website. Once this is done, the name of the patient will
be deleted from the online database and only the unique identifier will be used. Each
clinician permitted to access this website will be tracked with a login procedure that
includes a process to verify who is entering the system. Clinical data will be provided
by the participant's physician through the web-based entry system, coded with a unique
identifier, and entered into the secure Clinical Database as an initial visit data (F01
or primary data form) and annual follow up (F11 or follow up form). Data entry will
last the duration of this study. No names or initials will be collected on these data
forms, but gender and date of birth (which will be converted to age and only the month
and year will be kept on file) will be requested. The physician will not receive a
monetary incentive for entering data.

4. Blood samples for diagnostic testing (with signed clinical genetic testing consent)
will be sent to the UAB MGL. The UAB MGL will perform standardized fee for service
testing for PKHD1 mutations. The clinical result will be reported to the patient's
physician/genetic counselor. As needed, genetic counseling services can be made
available through the UAB Department of Genetics (fee for service).

5. Blood samples for research purposes will come directly to the research lab from
patients/families signing the study consent and agreeing to have DNA extraction/EBV
transformation/or both. Adult and children participants need two tsp of blood and
infants need one tsp of blood.

6. This study does not provide free genetic testing. Clinical genetic testing is available
via UAB Medical Genomics Laboratory (CLIA and CAP approved) as a fee-for-service. The
result of the genetic testing will be entered into the Mutational Database if the
participant or their representative provides consent to participate in the Database.

7. Our center can be notified directly by a local physician authorized by the patient or
the patient can contact our center directly to donate hepato/renal fibrocystic disease
tissue. The research coordinator will contact the possible participant/parent/legally
authorized representative to discuss the study and their willingness to participate in
this research. If the study consents are signed, the research coordinator will call the
center/pathologist, sending the sample and provide them with instructions on how to
prepare and ship sample. On arrival to Dr. Guay-Woodford's lab, the sample will be
de-identified and coded with the participant's unique identifier and transported to the
UAB Tissue Collection and Banking Facility.