Questions about project Database

Q: At this moment, there is no database yet in which all these data can be stored. What is the expected time-span for making this possible?

A Ph D student will start setting up this database as soon as enough money is available. Until that time, all people with (suspected) Usher Syndrome can sign in through the e-mail address ushersyndroom@radboudumc.nl. It is important that as many patients in the Radboudumc as possible know when this project will start.

Q: Can people from abroad also sign in for this database?

Yes, people living outside the Netherlands can also sign in for this database.

Q: What will the money necessary for financing this database be used for?

The money will be used for appointing a researcher/Ph D student and a research nurse for mapping out and analysing the genetic data.

Q: Can the database only be started when the target amount has been collected?

The database can only be set up when the required financing has been accounted for. This money is required for appointing people to do this study.

Q: Where can people sign in for the database?

People can sign in through ushersyndroom@radboudumc.nl.

Q: I have not had a visual field test and/or hearing test in years, is it still important for me to sign in for this database?

Yes. At this moment we think it is useful to have an examination every year in order to test the natural impairment of hearing and vision. These data are important for being able to compare future treatments with the average impairment. Also people who have not been tested in the past few years, can participate and we advise them to have an examination every year.

Q: How do I know that I have Usher Syndrome?

When there is a loss of hearing or deafness combined with night-blindness and/or tunnel vision it is advisable to have yourself tested for Usher Syndrome.

Q: How can I find out which gene has been affected in my case?

Each academic hospital can determine whether or not you have Usher Syndrome. A clinic examination is done by the ENT specialist (for hearing) and ophthalmologist (for vision) and they or a clinical geneticist can request for a genetic test. You can also send an e-mail to ushersyndroom@radboudumc.nl, so we can advise you which centre in your neighbourhood will be the best for you to go to.

Q: What will happen if I sign up for the database?

Old test data will be retrieved. Additionally, the hearing and vision will be tested and a genetic examination will be done if this has not been done yet. Apart from this, we have plans to present general questionnaires in order to identify factors that influence the impairment of hearing and vision. The latter can only be successful when we have a large number of patients in the database for us to examine.

Q: When will this database be started?

When we have sufficient financial means.

Q: I only have RP, but recently it turned out that I have a mutation in one of the Usher Syndrome genes. Is this database also meant for me?

As a mutation in an Usher gene has been found, it may be useful to be included in the database in connection with any development of a genetic therapy for Usher Syndrome. Besides, the database research can also explain why you only have RP and not, like most people with Usher, a hearing problem as well.

Q: My data are already known in the RD5000 project/database. Is it wise for me to also sign up for this database?

The RD5000 database is only focused on loss of vision and not of hearing. Therefore it will be useful to sign up for both.

Q: I have signed in for the Usher register through the MUS foundation. Is this register the same as the database?

The register is a worldwide collection of all people with Usher Syndrome and intended for bringing people/fellow-sufferers into contact with each other. The database goes a lot further and is a collection of all kinds of clinical data, such as audiograms and visual field tests that will help making a better prognosis and finding an explanation for the large individual differences in loss of hearing and vision between patients.

Q: Can this research/database only be done in Nijmegen?

Usher Syndrome is a spearhead in the research of the ENT and ophthalmology of the Radboudumc in Nijmegen. At this moment various specialists are doing very specific research into Usher Syndrome. In this they are working together with other academic hospitals in the Netherlands.

Q: I do want to participate in this research, but my brother/sister who also suffers from Usher Syndrome does not want to participate. Can I sign in anyway?

Of course, anyone can participate in this research. Every person is free to decide to participate or not for him/herself. Research including brothers and sisters is useful though, because this may result in an explanation of the differences found in the seriousness of the loss of hearing and vision between family members.

Q: I live far away from Nijmegen. Can I make an appointment with the specialist at the Radboudumc?

Everyone suffering from Usher Syndrome can make an appointment. For this you need a referral from the family doctor, which you can send to ushersyndroom@radboudumc.nl. The e-mail will be assessed and then you will be scheduled for a visit to the outpatients' clinic.

Q: Is this database for all forms of Usher Syndrome?

Yes.

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