HOW TO PARTICIPATE
We do not know what causes PSC. However, there is evidence that genetic factors are important. By studying DNA obtained from people with PSC, we hope to achieve a better understanding of how genetic factors contribute to this disease.
This study is organised by the UK-PSC national research collaboration (www.uk-psc.com), funded by the National Institute for Health Research. The investigators include doctors looking after people with PSC across the UK. The Chief Investigator is Dr Gideon Hirschfield. It is jointly sponsored by the University of Cambridge and Cambridge University Hospitals NHS Foundation Trust. It has been reviewed and approved by the Cambridge South Research Ethics Committee (REC reference 08/H0305/45).
If you decide to participate in the study, we will ask you to do the following:
- Initial, date and sign the Informed Consent Form to show that you agree to take part in the study;
- Donate two blood samples, which can be taken at your next hospital appointment for your PSC or at your GPs surgery. One sample is for DNA extraction and one is to measure markers in the blood associated with PSC.
- Fill in two questionnaires, one about your PSC and your health in general, and one about your experience of itching symptoms.
Contact us (B.F.Bell@bham.ac.uk) to find out about the process for children participating in the study.
If you participate in the study, we will collect your name and contact details so that if we need to, we can contact you during the study. We will also collect information about your health and major life events. This information will include your current and past illnesses; admissions to hospital; investigations such as blood tests, scans or radiological investigations, and any treatments you might have received.
Participation in this study is entirely voluntary. If you decide not to participate, this will not affect your future medical care. Even if you agree to participate, you may still withdraw from the study in the future, without having to give a reason.
There are no direct benefits in terms of the care you currently receive in the clinic and on the ward. However, results from this study may help us to achieve a better understanding of what causes PSC. This may result in benefit for all patients with PSC in the future.
The only real disadvantage of taking part in the study is having blood taken. There may be some discomfort from having blood taken and there is a small risk of bruising, inflammation or fainting.
If you participate in the study, we will collect your name and contact details so that if we need to, we can contact you during the study. We will also collect information about your health and major life events. This information will include your current and past illnesses; admissions to hospital; investigations such as blood tests, scans or radiological investigations, and any treatments you might have received.
Yes, the UK-PSC Genetics Study, part of the RD-TRC, conforms to strict data-handling and access procedures and uses secure data systems developed to NHS standards. All aspects of this study will comply with the Data Protection Act (1998).
If you join the study, you will be assigned a unique study number. Any samples you donate will be labelled with this number.
You may wish to have your blood taken by your GP. Within the recruitment pack is a letter to your GP informing them of your participation in the study. This form also requests them to take your blood for the study. Please note that GPs will not take blood samples from children.
The results of the study will be published in scientific journals and presented at medical meetings both locally and nationally. You will not be identified in any reports or publications.
Results that have been published in the scientific literature will also be reported on thiswebsite. Furthermore, important results will be reported in the newsletters or on the websites of UK-based patient support groups, such as PSC Support.
You are free to withdraw from the UK-PSC Genetics Study at any time without giving a reason. If you choose to withdraw from the study, you will not be contacted by the study again. Please note this will not affect the care you receive from the NHS in any way.
Your stored samples will be destroyed and no new information about you will be added to the research database. It will not be possible to destroy samples that have already been prepared for testing or distributed to other laboratories collaborating in the study. Furthermore, it will not be possible to delete information about you that has already been added to the research database.
If you wish to withdraw, please contact the contact the study team at ukpsc@uhb.nhs.uk (Tel: 0121 371 8101).
If you have more questions, please contact the study team at ukpsc@uhb.nhs.uk (Tel: 0121 371 8101).
AIMS AND SCOPE OF THE STUDY
UK PSC is a group of leading researchers covering different areas of expertise such as immunology, genetics, hepatology, gastroenterology, microbiology etc., all with an interest in researching PSC. The steering group includes patient representation from PSC Support and they regularly meet to discuss progress of projects including the UK PSC Genetics Study, and research direction.
The UK-PSC Genetics study began in 2008 to investigate genetics in PSC. Since then it has gone from strength to strength, recently securing a grant from the National Institute of Health Research (www.nihr.ac.uk), to build on previous work to better understand PSC. It is governed by the UK-PSC steering group.
A BioResource is panel of information collected from patients to help in research studies investigating the links between genes, the environment, health and disease.
The UK-PSC BioResource will use PSC patients’ blood samples and questionnaire answers to look at the links between PSC, genes, and the environment. We are able to perform genome sequencing in the UK-PSC BioResource which will further our knowledge of the genetic factors involved in PSC. We plan to anonymise the information in the BioResource for sharing with other PSC- related researchers. Information sharing is key to speeding up and reducing the costs of future research projects. We believe the best hope for finding a cure is for researchers nationally and internationally to share high quality resources and knowledge.
Translational research is where new discoveries and answers to basic, fundamental research questions (such as, ‘What is the cause of PSC?’) are converted into actual medical practice (such as the development of targeted therapies or interventions to slow down or stop the disease). It is vital for rare diseases like PSC where we are still investigating those fundamental questions.
The word ‘genome’ means all of the genetic information contained in your DNA. Genome sequencing is the decoding of all of the genetic information contained in a sample of DNA. However, PSC is complex and doesn’t arise from a mutation in a single gene. More likely, it results from interactions between genes and the environment. Genome sequencing cannot give us all the answers but it can take us one step closer to understanding PSC and form the basis of future research.
There is a small chance that in the course of sequencing your genome we may discover a genetic abnormality that is known to cause a particular disease. If this happens, we will let you know via your liver doctor, unless you ask us not to.
A blood marker is a substance that can be identified in a blood sample particular to a group of patients. A marker could be used to identify PSC (there is no such known marker at present) or even different variants of PSC. PSC is complex and being able to easily identify particular groups of PSC patients (stratification) could help target research in specific areas.
The answer to understanding PSC does not lie simply in DNA collection and genomic investigations. To truly understand, we need to know what it is like to have PSC and how it affects you, and how all that relates to your DNA.
PSC disease stratification means to identify subgroups of PSC patients with different characteristics such as biochemical differences between types of PSC or the different ways PSC progresses. Stratification is important in a complex disease like PSC because it can lead to targeted research and one day, we hope, targeted therapy personalised to each patient.