Abstract
BackgroundPrimary sclerosing cholangitis (PSC) is a rare, chronic cholestatic liver disease that often progresses to end-stage liver disease and/or the development of hepatobiliary neoplasia. Lack of prognostic tools and treatment options for PSC is driven in part by our poor understanding of its pathogenesis, which is thought to be complex, the interaction of genetic variants, environmental influences and biological response throughout the course of disease. The PSC Scientific Community Resource (PSC-SCR) seeks to overcome previous shortcomings by facilitating novel research in PSC with the ultimate goals of individualizing patient care and improving patient outcomes.MethodsPSC patients who receive their health care at Mayo Clinic or a collaborating site are identified by chart review and invited in person or by mail to participate. Non-Mayo patients are offered enrollment if they provide sufficient access to their medical records to evaluate inclusion/exclusion criteria. Controls without liver disease are identified with assistance of the Mayo Clinic Biobank. Participant consent is obtained at the beginning of the recruitment process by mail-in, electronic or face-to-face protocols. Clinical data is extracted from the medical record by qualified physicians and entered in a custom designed database. Participants fill out a custom-designed, comprehensive questionnaire, which collects scientifically relevant demographic and clinical information. Biospecimens are collected using mail-in kits thar are returned via overnight carrier service and processed by the biospecimen accessioning and processing facility at Mayo Clinic, which coordinates sample transfers and provides required sample preparation services. The resource is currently being utilized to perform omics-scale projects investigating the exposome, metabolome, methylome, immunome and microbiome in PSC. Datasets and residual biospecimens will be shared with researchers proposing scientifically sound PSC-focused research with approval of the appropriate review boards.DiscussionPatient-based studies leveraging the latest technologies for targeted and wide-scale interrogation of multiple omics layers offer promise to accelerate PSC research through discovery of unappreciated aspects of disease pathogenesis. However, the rarity of PSC severely limits such studies. Here we describe our effort to overcome this limitation, the PSC-SCR, a repository of patient biospecimens coupled with clinical and omics data for use by the broader PSC research community.
Highlights
Primary sclerosing cholangitis (PSC) is a rare, chronic cholestatic liver disease that often progresses to end-stage liver disease and/or the development of hepatobiliary neoplasia
Enrollment of patients and controls Patient recruitment PSC patients who receive their health care at one of the three primary Mayo Clinic sites (Minnesota, Florida, and Arizona) or in the broader Mayo Clinic Health System are identified by chart review and invited in person or by mail to participate in our studies
Genomic DNA and/or buffy coat, plasma and peripheral blood mononuclear cells (PBMC) samples are available for the majority (> 90%) of PSC patients and controls while serum is more limited as it was collected as a residual of prospective liver function tests in the previous protocol
Summary
Enrollment of patients and controls Patient recruitment PSC patients who receive their health care at one of the three primary Mayo Clinic sites (Minnesota, Florida, and Arizona) or in the broader Mayo Clinic Health System are identified by chart review and invited in person or. Genomic DNA and/or buffy coat, plasma and PBMC samples are available for the majority (> 90%) of PSC patients and controls while serum is more limited as it was collected as a residual of prospective liver function tests in the previous protocol. Na, not applicable; BC, buffy coat; PBMC, peripheral blood mononuclear cells; IBD, inflammatory bowel disease a At time of blood sample collection b Race information not available for five controls c Clinical follow-up post first blood sample collection performed under IRB#16005892 d Advanced disease defined as having one or more of the following: liver transplant, cirrhosis determination or hepatic decompensation event eHepatobiliary cancer defined as having one or more of the following: cholangiocarcinoma, hepatocellular carcinoma or gallbladder cancer collected bile samples from 34 patients during ERCP and liver tissue from 18 patients at time of liver transplant
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