The Norwegian PSC Research Center Biobank

Transcription

1 The Norwegian PSC Research Center Biobank Trine Folseraas Norwegian PSC Research Center, Department of Transplantation Medicine, Division of Surgery, Inflammatory Medicine and Transplantation, Oslo University Hospital- Rikshospitalet

2 Design Autoimmune hepatitis (AIH) Primary biliary cirrhosis (PBC) Primary sclerosing cholangitis (PSC) Study design: cross-sectional and longitudinal Recruitment strategy: Adults resident in Norway with primary sclerosing cholangitis (PSC) and associated conditions + other autoimmune liver diseases (AIH, PBC)

3 Design Number of participants/donors: 2182 (PSC, healthy controls, inflammatory bowel disease, other liver diseases)

4 Design History: Formally established May 2008

5 Biobank description Number of samples/aliquotes: 93,162 matrices available Cross-sectional or serial: Plasma, sera, urine, bile, biliary brushes, fecal/bacterial DNA, tissue (liver, bile ducts, intestinal)

6 Biobank description Description on major initiatives where samples have been converted to data points: *Genomics/epigenomics/metagenomics *Transcriptomics *Proteomics *Metabolomics Examples: *Multiple genetic association studies in PSC *Genetic comparison with other autoimmune diseases *Genetic/epigenetic studies on biliary tract cancer utilizing tissue, biliary brushes, bile and sera.

7 Clinical and Phenotypic data PSC prospective cohort (Oslo n= ~ 25, Bergen n= ~ 75): to be extended All new PSC patients PSC patients considered for liver transplantation PSC follow-up after liver transplantation (1, 3, 5, 10, 15 yrs etc) ~ 5 years interval of all PSC patients on re-admissions Biliary tract cancer with or without PSC Other; HCC, AIH, PBC, ALC pre-tx, post-tx, 1, 3, 5, 15 yrs etc

8 Clinical and Phenotypic data Questionnaires, measurements and interview data collected: Yes Databank description: Medinsight database «External» resources utilised in research Nation-wide registries: Norwegian Cause of Death Registry Disease-specific registries: The Nordic Liver Transplant Registry Access to EMR data: Patient Medical Records (project-specific) Describe option to re-contact subject, if possible: Broad Concent

9 Research focus Describe research focus at the institution/research group: Cause of PSC risk and disease mechanisms. Cancer and PSC diagnosis and treatment. IBD and PSC characteristics and treatment. Medical treatment of PSC. Endoscopy and PSC diagnostic applications and treatment. Liver transplantation in PSC recurrence and rejections.

10 Research focus Areas of special interest to collaborate with industry: 1x drug innovation deriving from own research 1x implemented surveillance tool for early biliary tract cancer detection 1x implemented tool for early PSC detection in Inflammatory bowel disease 1x implemented tool for measuring PSC activity 10 industry driven clinical trials with NoPSC participation The chance outcome: preventive means

11 Research focus External and international collaborators (a selection): Internal: Department of Pathology, Oslo University Hospital, Rikshospitalet Department of Radiology, Oslo University Hospital, Rikshospitalet Division of Surgery, Inflammatory Diseases and Transplantation, Oslo University Hospital, Rikshospitalet National: Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet Department of Gastroenterology, Haukeland University Hospitak and Akershus University Hospital International: International PSC Study Group (IPSCSG) Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany The European Network for the Study of Cholangiocarcinoma (ENS-CCA) UCL & Royal Free Hospital, London, UK Nordic Biosciences, Denmark (ongoing industry collaboration)

12 PSC-associated biliary tract cancer *Lifetime risk in PSC: 7-14% *Difficult diagnosis ->CCA diagnosed at advanced stage in the majority of patients *No effective medical treatment ->Poor prognosis: 5-year less than 10%

13 Case-control study: 1x implemented surveillance tool for early biliary tract cancer detection Biliary brush samples: N = 103 Sensitivity : 85% Specificity: 98% 4-gene panel: CDO1, CNRIP1, SEPT9 and VIM Andresen et al, Hepatology Four DNA methylation biomarkers in biliary brush samples accurately identify the presence of CCA

14 Methylation profiling from brush to bile Bile samples: N = 92, total n = 300 Sensitivity : 80% Specificity: 100% 4-gene panel: CDO1, CNRIP1, SEPT9 and VIM Manuscript in prep

15 From «proof of principle» in bile to bloodbased CCA-diagnostics?

16 How to collaborate? A few words on internal rules and regulations for accessing data and samples at our biobank: *Project description *Assessment at NoPSC coordination meeting *Ethical approvals, MTAs, DTAs Place to find more information:

17 How to collaborate? Norwegian PSC Research Center, Department of Transplantation Medicine, Division of Surgery, Inflammatory Medicine and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950 Nydalen, N-0424 Oslo, Norway.