Core A: ARPKD Clinical and Genetic Resource
; (205) 934-7308
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a relatively rare disorder, occurring in ~1 in 20,000 live births. Therefore, no single Center has sufficient patients for adequately powered clinical studies, genetic investigations, and/or therapeutic trials. Building on the established North American ARPKD Database and our extensive experience with mutational analysis of recessive PKD genes, including PKHD1, the objective of Core A: the ARPKD Clinical and Genetic Resource is to develop a unique set of clinical, genetic, and educational resources for ARPKD.
The Core has three primary objectives:
Build a comprehensive Clinical Database that includes all patients who meet the inclusion criteria for ARPKD.
Genotype children with classic ARPKD, as well as unusual recessive PKD phenotypes, for mutations in PKHD1 and/or the human orthologues of mouse recessive PKD genes and develop a Mutational Database. This Database will be capable of linking clinical and mutational information in a searchable format to facilitate genetic analyses (e.g. genotype-phenotype correlations, modifier gene studies), translational studies, and clinical trials).
Create a multi-media, web-based resource called “Understanding ARPKD”. This Aim will address the paucity of reliable sources of information currently available to ARPKD families, their physicians, and genetic counselors.
Through the P30 mechanism, Core A will make these important resources available to the broader community of interested investigators, ARPKD families, and physicians/healthcare providers.
Accomplishments to date:
- Developed a HIPAA-compliant, web-based portal for clinical and mutation data entry (http://www.arpkdstudies.uab.edu/).
- Designed data collection instruments for initial clinical data (F01) and annual follow-up data (F11).
- Implemented an IRB-approved algorithm for clinical data entry that obviates the need for the contributing physician to obtain local IRB-approval.
- Recently obtained UAB IRB approval to expand the Database from the US and Canada to Spanish-speaking Latin America and Brazil (Informed Consent translated into Spanish and Portuguese).
- Posted on the Core A website a portfolio of ARPKD-related presentations (directly viewable as html files or downloadable as pdf files).
- Secured funding from the PKD Foundation to support the development of a video-based resource for families, patients, and medical community:
- Patient education
- Testimonies from families of ARPKD children
- Physician education, potentially including a CME course
- This video based resource is being developed in collaboration with Alabama Public Television.