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We would like to ask your permission to include you in this 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 this 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. Take time to decide whether or not you wish to take part.
Thank you for reading this.
Why is the study being done?
The study aims to give people and families with Usher syndrome better information about their disorder. To do this we need to look at hearing, balance and sight, as well as the genes that can cause Usher syndrome.
We want to link information about severity and type of hearing, balance and vision loss in people with Usher syndrome, with the gene that causes their disorder. Any one of eleven different genes can cause Usher syndrome. We want to know if some genes cause the condition to be more or less severe, and we want to know which are the common types of Usher syndrome in the UK.
We hope that in the future this will improve the information we can give about hearing, balance and vision loss to families with Usher syndrome. At the moment genetic testing for people with Usher syndrome is not available in the UK, and this work will also see whether this is possible.
Why have you been invited to take part?
You have been invited to take part because you have been diagnosed with Usher syndrome. We wish to study 200 people who have Usher syndrome (adults and children) and to test their hearing, balance and vision as well as their genes. The study will last 3 years but we will only ask you to have these tests once.
Do you have to take part?
It is up to you to decide whether or not to 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. If you decide to take part you are still free to withdraw at any time and without giving a reason. A decision to withdraw at any time, or a decision not to take part, will not affect the standard of care you receive in the clinics in any way.
What will happen to you and your family if you take part?
If you want to take part in this study, the Family co-ordinator will contact you, offer to visit you at home, or arrange to see you at a meeting organised by Sense (the National Deafblind Association) and ask you questions about your Usher syndrome. They will draw your family tree and take a blood sample from you. They will also wish to find out if other family members (parents, brothers and sisters) might also want to help by also giving a blood sample although this is not essential to the study. The purpose of the blood samples is to look at genes which cause Usher syndrome. Having blood from other family members will help us to exclude some of the genes that can cause Usher. The Family co-ordinator will also arrange a time for you to come up to the clinic in London to have tests on your hearing, balance and vision. (Parents, brothers and sisters will not have these tests). This may mean 2 clinic visits. We would be able to pay your travel expenses up to £50 per visit.
If you request it, we will arrange for an interpreter to be present.
What tests will you have to do?
We will ask you to have
- Hearing and balance tests
- Vision tests
- A blood test
Hearing tests
You will probably have had similar hearing tests in the past. We expect the hearing tests to take up to an hour.
- Audiogram. You will listen to faint sounds through the headphones and be asked to press a button every time you hear a sound.
- Tympanogram. A small plastic earplug is put into the ear. It gives a sound and a puff of air into the ear. This takes a few minutes. It should not hurt.
If you are profoundly deaf you will not need any other hearing tests.
If you are moderately to severely deaf two other hearing tests may also be done.
- Acoustic reflex thresholds. A plastic earplug, which is connected to our recording equipment, is placed in each ear. You will hear brief sounds of increasing loudness in one ear and we will record the movement of the eardrum in response to these sounds. You just need to sit still for a few minutes.
- The Auditory Brainstem Response: Electrodes (small discs) are placed behind each ear and on top of the head with a sticky plaster. You will be asked to lie or sit still while click sounds are heard through headphones and we will record your brain waves in response to these sounds.
Balance tests
Some people with Usher syndrome have problems with balance so we are testing balance in this study. We have some short video clips of someone having balance tests, which we can show you. You may need to be in the clinic most of the afternoon and you will have breaks in-between the tests.
- Eye movement test. Balance can be checked by recording the movements of the eyes caused by changes in head position. This is done by sticking small electrodes (metal discs) on either side of the eyes and on the forehead or by asking you to wear special goggles, which allow us to record eye movements. The tests take place in a darkened room and you will be given time to get used to the darkness. We will ask you to sit in a chair and look at a small moving light and a striped curtain, which moves round. On about five occasions, the room will be totally darkened for about 30 seconds, and we will tell you when this will happen. On two of these occasions, we turn the chair around: first to the right and then to the left. You may find this quite pleasant (like a roundabout at a playground although the movement is not as fast). The test will be stopped at any time if you feel uncomfortable.
- Caloric test. This test takes about 20 minutes. It is another test to find out how the balance organ in your ear is working by using cool and warm water. You will lie down on a bed and look at a small red light on the ceiling. Firstly cool water (7oC below body temperature) is run gently into one ear for 40 seconds and allowed to run out into a small bowl. This makes the eyes move and might make you feel dizzy or even a bit sick (similar to motion sickness). Then the lights will be switched off so that we can watch your eyes move. The tests will be stopped until you feel normal again. The test is repeated using warm water, (7oC above body temperature), which may seem hot at first, after the cool water. People say this is a strange feeling but it is not painful.
- The vertical and horizontal position tests. These tell us how good you are at judging what is straight. You will sit about 2 metres away from a large round disk. In the centre is a bar. You will be asked to move the bar straight up or flat across, using a remote control. Firstly this is done in the light and then in the dark, when only the rod will be lit-up.
Vision tests
The vision tests will take half a day at most to complete including rest breaks, and are not uncomfortable. You may already have had these tests during previous visits to the clinic, but it may be best to repeat some of the tests for the study. To examine the retina, the part of the eye affected by Usher syndrome, we need to use eye-drops. These drops make the pupil, the centre black part of the eye, larger. They do feel cold and do sting for a few moments and may make your vision blurry for a couple of hours. (This is why it is helpful to bring a friend with you). When the pupil gets bigger the eye doctor will shine a light at the eye to look carefully at the retina and optic nerve. Also, a bright light will be used to take some photographs of the back of the eye.
During the eye clinic visit, a visual field test may also be done. In this test, we will ask you to sit in front of a large screen and press a button when you see a light flash within your field of vision. Each eye is tested separately, so one eye is covered whilst the other eye looks at the screen. Each test takes about 15 minutes. We can tell if you have any loss of visual field due to the Usher syndrome.
Finally, we will ask you to have an ERG (electroretinogram) test. This test is not uncomfortable but takes a couple of hours to do. Small gold-leaf electrodes are placed over the lower eye-lids to measure the signals made from the eye. These do not cause any discomfort, as they are very delicate and do not touch the eye itself.
The lights in the room will be turned off. Black and white squares of different sizes will be shown on the TV. Lights of different colours will be flashed at your eyes first with room lights off and then with room lights on. The flash of light and the patterns will be shown to both eyes and then each eye will be covered in turn. At the end of the test the gold foil electrodes are easily removed.
Genetic tests
You will be asked for a blood sample. We will take 10mls of blood (about 2 teaspoonfuls) for genetic analysis. Your blood will only be used for Usher research.
What are the risks and discomforts?
The vision tests have been carried out on people, both adults and children at Moorfields Eye hospital for many years and there are no known risks associated with the tests. The eye drops can cause blurring of vision, particularly near vision, for a while. We do not think there are any risks from hearing or balance tests.
You will have a needle-prick in the arm to get the blood sample, which may feel uncomfortable for a few moments.
What are the benefits of the study?
This research is not looking for a cure or treatment for Usher syndrome. However with your help, by the end of the study we will know more about the genes which cause Usher and the type of hearing, balance and vision problems that can occur.
What if something goes wrong?
If there is a problem or complaint please contact Mary Guest,
National Collaborative Usher Study, Sense, 101 Pentonville Road, London N1 9LG.
Email : mary.guest@sense.org.uk
Tel: 0845 127 0060
Textphone: 0845 127 0062
Fax: 0845 127 0061
Or
You may contact the research scientists directly. Their full contact details are given at the end of this fact sheet.
An independent Research Ethics Committee believes that taking part in this study will not harm you or your eyes but we want you to know about your rights in case something unexpected happens.
You have the right to claim damages in a court of law but you would have to prove that the Hospital is at fault.
Who will see the case/research records?
Only the research team will see the records.
Your case records are protected by law (the Data Protection Act 1998). In law the researchers must keep personal information confidential. The law also gives you rights. If you have any questions about this, please contact the Data Protection officer via the switchboard on 020 7405 9200 extension 5217.
With your permission we would like to let your GP know that you are helping with this research.
Do you need to bring anything with you?
Please bring your hearing aids, if you use them, so that we can communicate with you more easily.
For the vision test bring your spectacles with you if you wear spectacles or contact lenses. If you wear contact lenses bring along any solutions and cases, as it may be necessary to take these out during some of the tests. It is also helpful to bring along any medications that you are presently taking. Finally, as the drops can blur the vision for a couple of hours, it would be helpful to bring a friend or relative to the clinic, if possible. If it is a sunny day bring sunglasses, as your eyes will not be able to adapt to bright sunlight.
What will happen to the results of the study?
Results from your hearing, balance and vision tests:
The person performing the hearing, balance and vision tests, and the eye doctor will tell you the results of their findings (degree of hearing and visual loss and whether balance is affected) at the time of the test. You are very welcome to ask any questions about the results of the tests at the time, or if they occur to you later, by contacting the persons below.
Results from genetic tests:
In some families we may not be able to find the gene that causes the Usher syndrome. This is because we know that genetic testing is not yet perfect and scientists have not yet found all of the genes that can cause Usher syndrome.
We will not give individual genetic information to families unless they particularly ask at the end of the study. If there are genetic results and a family asks for results, these will be shared with the family by Dr Bitner-Glindzicz (Clinical Genetics, Great Ormond Street Hospital), Dr Andrew Webster (Moorfields Eye Hospital) or a Genetic Counsellor. We will not be able to offer information to the brothers and sisters of people with Usher about their carrier status by the end of this study. This is because we use their blood to rule out some of the Usher genes but we do not check to see if they are carriers. We hope that this might be possible in the future.
We will inform everyone of the general results of the research in the 'Talking Sense' newsletter published by Sense, and on the Sense website. No one will be named in this information.
We plan to publish the results of the research in medical and scientific journals and at meetings during or at the end of the third year of the study.
Who is organising and funding the research?
The National Collaborative Usher Study is being funded by a grant from the Community Fund to Sense who are commissioning scientists at The Institute of Child Health/ Great Ormond Street Hospital and the Institute of Ophthalmology to carry out the Study. The British Retinitis Pigmentosa Society is funding part of the ophthalmic investigation at the Institute of Ophthalmology/ Moorfields Eye Hospital. No one is paying the researchers to enter you into the study.
Who has reviewed the study?
The Research Ethics Committee, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, The Research Ethics Committee, Moorfields Eye hospital, London EC1V 2PD and a Multicentre Research Ethics Committee.
Contact for further Information:
Mary Guest, National Usher Collaborative Study, Sense, 101 Pentonville Road, London N1 9LG.
Tel: 0845 127 0060
Textphone: 0845 127 0062
Fax: 0845 127 0061
Or
Dr Maria Bitner-Glindzicz
Unit of Clinical and Molecular Genetics, Institute of Child Health, 30 Guilford St., London WC1N 1EH. Tel: 020 7905 2608
Or
Dr Mazal Cohen
Audiological Scientist, Academic Department of Audiological Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH. Tel: 020 7813 8107
Or
Mr. Andrew Webster
Institute of Ophthalmology, Bath Street, London, EC1V 9EL. Tel 020 7608 6806
Version 3 - November 2003
This information sheet is available in BSL. Click here to go the video content.
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