The PBC Genetics Study
This is a UK-wide multicentre effort to establish a UK PBC Bioresource consisting of minimum 5000 unique PBC DNA samples, detailed phenotype information about each participant, and the facility to recall selected participants to provide blood and other samples for immunophenotyping and related studies. Samples from the UK PBC Bioresource were recently utilised in a highly successful genome-wide association study (GWAS) of PBC, which has identified several previously unreported risk loci for PBC. Ongoing recruitment is required to suitably power future studies to identify genetic loci which influence disease progression or confer risk of important sub-phenotypes, including pruritus and fatigue.
Almost all NHS Trusts in the UK are involved in this study and approximately 3500 PBC cases have been enrolled in the study. It is feasible to recruit a total of 5000 cases within 12 months, if clinicians remain enthusiastic. Please continue to support this project.
A UK Collaberative Study to Determine the Genetic Basis of Primary Sclerosing Cholangitis (UK-PSC).
This is an observational case-control genome wide association study. The primary aim of the study is to determine the genetic factors predisposing and contributing to the development of PSC. The secondary objective is to determine the molecular mechanisms by which genetic variants associated with PSC cause disease. Also from the patient and clinician questionnaire epidemiological information will be collected, which would provide us with phenotypic characteristics of the largest cohort of PSC patients in the British population.
To date, 1400 patients have been recruited from over 120 NHS trusts and 1050 DNA samples have been collected, expecting to reach 1500 samples by December. Current recruitment is 40 new patients each month. There has been tremendous support from the UK CLRN research nurses who have helped with patient recruitment in the participating trusts. Approval awaited from a further 15 trusts in the UK including Northern Ireland. Please contact trial team if you need any further information regarding the study or recruitment process.
Dr Brijesh Srivastava
Clinical Research Fellow Addenbrooke’s Hospital, Cambridge.
Phone: 01223 769 088
Dr Simon Rushbrook
Chief Investigator Consultant Hepatologist
Norfolk & Norwich University Hospital, Norwich.
Proteomic and metabonomic profiling for biomarkers in benign and malignant hepatic and pancreatobiliary disease.
This study will utilise proteomic, genomic and metabonomic techniques in the discovery of novel biomarkers of hepatocellular carcinoma (HCC) and pancreaticobiliary diseases including cholangiocarcinoma (CC), pancreatic cancer and benign biliary disease. For malignant cases, diagnosis based upon cytology or histology is considered confirmed. However, a positive combination of clinical course, multi-modal imaging, serum markers and HPB cancer MDT consensus is also considered adequate confirmation of diagnosis for this study. Procedures: blood sample and urine sample, and short demographic, medical and dietary questionnaire. Collaborating centres with substantial HCC and CC caseloads are initially sought. Collaborating centres should have the facility to complete simple sample processing (centrifugation, aliquoting of supernatant) and store samples at -80oC pending transfer to the hub centre. This study has been adopted by the UKCRN and a per case payment can be accrued by participating centres.
There are also genetic studies of IBD, PBC, and PSC, and a number of other possible trials. Details of these can be found on the UKCRN portfolio at http://public.ukcrn.org.uk/search/ To use this, click on the down-arrow of the 'topic' box and select 'oral and gastrointestinal', wait for the page to reload and under specialty group choose either gastrointestinal or hepatology.
Map of CLRN networks:
National Institute of Health research website:
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