Adult Participant Information Sheet
Genetic Basis of Structural Brain Abnormalities and Learning
Disability
We would like to invite you to take part in a research study. Before you decide it is important
for you to understand why the research is being done and what it will involve. Please take
time to read the following information carefully and discuss it with others if you wish. Ask us if
there is anything that is not clear or if you would like more information.
Reason for the Study
The aim of this study is to identify genes that cause structural brain abnormalities, which may
be associated with learning disability with or without epilepsy. Finding such genes will help
improve our understanding of how these disorders occur. This knowledge may eventually help
in the management and treatment of these conditions. Our research may also help
understand how these genes function normally in human development.
Why have I been invited?
You have been approached about this research because of your medical condition.
Do I have to take part?
It is up to you to decide whether or not to take part. If you decide to take part you are free to
withdraw from the study at any time and without giving a reason. This will not affect the
standard of care you receive in any way.
What will happen if I decide take part?
If you do decide to take part you will be given this information sheet to keep and be asked to
sign a consent form. We will ask your doctor to take a sample of blood and/or saliva from you.
In instances where a DNA sample already exists it will not be necessary for us to take a
blood/saliva sample. The sample will be treated as a gift from you, and will be under the
custodianship of the Oxford University Hospitals Trust. We will also ask your doctor for clinical
information about you, relevant to the condition. Any personal data and information given to us
will be kept confidential.
Will my family members be approached to take part?
As some genetic changes are inherited and may run in families, we may wish to obtain DNA
samples from unaffected and other affected members of your family. If this arises we will
provide you with a letter of invitation to be passed on to your family members and allow them
to contact us directly, if they wish to contribute to our study.
What will I have to do?
You participation in this project may require you to provide a blood and/or a saliva sample.
Expenses and Payments
Wherever possible we will try and ensure that your involvement does not result in additional
expenditure (e.g. travel costs) by incorporating this study into existing consultations.
Regrettably, we do not have provision to cover such costs.
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Possible Benefits of Participating in the Study
We hope to identify changes in one or more genes that cause structural brain abnormalities in
some affected individuals. Some genes are already known, but it is clear that many more
genes remain to be identified. It may also allow us to give you accurate information about how
likely it is that a future child of yours may be affected with the same condition. We cannot,
however, guarantee that we will be able to identify the cause of the disorder in all cases.
Possible Disadvantages of Participating in the Study
There is a risk of some minor discomfort and bruising from the taking of blood sample or mild
irritation of the mouth when saliva samples are taken.
What if new information becomes available?
Information relevant to your brain abnormality may be discovered in the course of this study.
You will be given the option on the consent form to say if you would like to be re-contacted
with this information. We may produce some information about other genetic changes that
may contribute to your risk to other diseases. These will be discussed with the hospital clinical
ethics committee on an individual basis and fed back to you via your doctor accordingly.
What happens when the research study finishes?
At the end of the study we will review our progress in explaining the genetic causes of
structural brain abnormalities. If the samples remain useful for research we will retain the
samples and information which will allow us to link it to the type of structural brain abnormality.
If it remains useful to maintain a link to your personal details we will contact you for permission
to do this before the end of the study. If we do not contact you or if you do not consent to
maintaining the link we will destroy any link with personal identities. We will not contact you
again for new information after the end of the study. The anonymised stored sample may be
used for future related research studies. Other researchers could include those in commercial
organisations. All further applications to use the sample will require Ethical Committee
approval.
What if there is a problem?
If you have a concern about any aspect of this study, you should ask to speak to Dr Kini who
will do her best to answer your questions [01865 226020]. If you remain unhappy and wish to
complain formally, you can do this by contacting Oxford University Hospitals NHS Trust.
Details can be obtained at http://www.ouh.nhs.uk/about/complaints.aspx. In the event that
something does go wrong and you are harmed during the research and this is due to
someone‘s negligence then you may have grounds for a legal action for compensation against
the Oxford University Hospitals NHS Trust, but you may have to pay your legal costs. The
normal National Health Service complaints mechanisms will still be available to you (if
appropriate).
Will my taking part in the study be kept confidential?
All information which is collected about you during the course of the research will be kept
strictly confidential, and will only be accessed by members of our research team. The samples
and personal information will be collated centrally at the Department of Clinical Genetics,
Churchill Hospital in Oxford. We will ensure confidentiality by giving all DNA samples a unique
number, rather than labeling them with your name.
What will happen if I do not want to carry on with the study?
You are free to withdraw from the study at any time. If you wish to do so all medical and
genetic data will be deleted from our records, and the DNA sample we hold will be destroyed.
What happens to the samples I give?
The DNA sample that you provide will be given a unique number and subject to a range of
genetic tests that will aim to identify the gene responsible for your condition. If you provide a
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blood or saliva sample, the DNA will be extracted within one week, given a unique number and
then stored in the freezer before the genetic tests.
How long will the study take and what will happen to the results of the
research study?
The study will take several years to complete. The results from the study will be published in
scientific medical journals and circulated to genetic diagnostic services.
Who is funding the research?
This research is being funded by the Oxford Biomedical Research Centre, a partnership
between the Oxford Radcliffe Hospitals NHS Trust and the University of Oxford, and by an
EU-Rare grant for research on Rare Diseases.
Who has reviewed this study?
All research in the NHS is looked at by independent group of people, called a Research Ethics
Committee, to protect your interests. This study has been reviewed and given favourable
opinion by the REC for Wales.
Further Information
If you wish to discuss any aspect of this study further please contact either Dr Usha Kini or Dr
Helen Stewart. Their details are listed below.
Dr Usha Kini
Consultant Clinical Geneticist
Churchill Hospital
Old Road
Headington
Oxford OX3 7LJ
Tel Sec 01865 226020
Fax 01865 226011
Dr Helen Stewart
Consultant clinical geneticist
Department of clinical genetics
Churchill Hospital
Oxford
OX3 7LJ
Tel Sec 01865 226026
Fax 01865 226011
If you require further information please visit our website: http://brainabnormalities.org.uk.
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