An European Registry of patients with Alternating Hemiplegia of Childhood

Parent/Carer information sheet

Your child has been diagnosed as having Alternating Hemiplegia of Childhood. An European Registry of all patients with Alternating Hemiplegia of Childhood in Europe has been established. We are asking your permission to include your child details in this Registry. Before you decide it is important for you to understand why the Registry has been set up 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. Take time to decide whether or not you wish to take part. Thank you for reading this. In the rest of this document Alternating Hemiplegia of Childhood is called “AHC”.

What is the purpose of the study?

AHC was first described in 1972 and since then we have learned how to recognise it and more of its manifestations, but to make further progress there is a great need of systematic clinical and basic science studies. This project is focused on the following questions: How common is AHC? It has been estimated that AHC affects 1 in 1-2 million people, however this may vary in different populations which might be the result of under- or over-diagnosis. The diagnosis is made on characteristic neurological features, but we know that there are a wide range of additional features. We want to collect the whole clinical spectrum associated with the AHC. Some patients with AHC are severely affected while others are less, and some are coping well with the disease. We need to describe the different categories and to know how many patients are in each. Many patients are treated with a number of drugs. We want to put together our shared experience so that it is possible to set up common guidelines for medication for AHC with a special attention to infants. Most children affected by AHC have learning and behavioural difficulties, but we want to describe them more accurately and to see how they relate to the rest of the features. We need better information on the long term outcome for patients treated for AHC. The EC-funded project has made possible the start of the European Registry on AHC and we hope that we will be able to continue and monitor the progress of patients on the database for many years. We do not know yet the cause(s) of AHC. Recently, a gene has been found that is associated with the AHC symptoms in one family, but not in other such families or isolated patients. Clearly, more patients and more genes have to be tested to produce a better classification of AHC and move towards being able to provide diagnostic genetic tests.

Why my child has been chosen?

Your child has been chosen because he/she AHC and because we want to gather information about as many as possible patient diagnosed with AHC in Europe. Only sufficient number of patients will allow to do representative studies.

What will happen to my child if he/she takes part?

You will not have to take any action at all. There will not be any tests or hospital visits extra to those needed for your clinical care. In this section we will explain what will happen if you agree to take part. Either your doctor, or another doctor in your country specialised on AHC, will collect (copies from ) already existing data about your child illness, file and store them. He/she will enter an extract of these data in English into a computer. The computer will be set up in … Europe and it will accessible through Internet in a protected way. The doctor who is entering the data has been supplied with a card with a password, and a card reader which fits into his or her computer. This card reader is able to encrypt data so that nobody else using the internet can gain access to it. Your data will be coded so that the computer in …will not know your name or address. Each patient will be given a number, and only the doctor entering the data will know which number you have been given. The doctors who are looking after your child can send a blood sample to a genetics laboratory that study possible genetic causes of AHC. We are asking your permission for the laboratory of this hospital to retain your sample securely, and to use any of the sample which is surplus to standard clinical investigations. In case your sample is used for genetic research, we ensure you that: nothing will be done with the sample which is detrimental to your interests it will not be possible to identify you in any publication or report which arises from this research there will be no commercial use of your sample You are only consenting to the use specified above.

Does my child have to take part?

It is entirely your/your family decision whether or not to allow your child's details to be included in the database. 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 for your child. If you do ask to withdraw, you will be asked if we may retain a minimum of coded data (age, gender, and clinical category) because this will help us to know how many patients there are in total, but your wishes in this matter will be respected. It is also up to you to decide whether or not to allow research to be carried out on your child's DNA sample.

Will my taking part in this study be kept confidential?

All information which is collected about your child during the course of the research will be kept strictly confidential. Any information about your child which is entered onto the Registry will have its name and address removed, and will not be supplemented with your photograph or video recording (if any), so that he/she cannot be recognised from it.. Your own GP will be notified of your participation in the database, unless you say you do not wish this.

What sort of data will be collected?

These are the categories of data which will be collected, and the reasons for collecting them.

Data Reason for collecting data

Age AHC is different in children from AHC in adults Gender We do not know if there is a difference in severity between males and females Data from neurological evaluation including video recordings To confirm the AHC diagnose and to describe the neurological spectrum of the disease. Video-recordings will be of a great support for the doctor who has to well define the neurological features before enter the data in the European database Laboratory and other clinical tests Results of such tests(if any) made previously will be supplemented to compare among patients                 Photographs There is a possibility for common dysmorphic features of patients with AHC, therefore to conduct a study we will need to compare their photographs Treatment given We need to know which treatments/medications are being used in different across Europe Results of developmental and /or school tests To provide information about the cognitive function

How long will my data be kept?

This project is funded for 2 years. We hope that after that there be more funding to continue the database and to take part of different research projects, and eventually, of clinical trials. AHC is a lifelong condition therefore it is important that we monitor the progress of the patients over the years. So we are asking permission to retain your child original collection of data and the coded details in the Registry for at least two more years , or as long as we are able to maintain the database securely. If we are not able to find funding to continue the database after the 2 years then the records will be destroyed.

How long will my child DNA sample be kept if I give permission for you to retain it?

It will be kept for up to 2 years as part of this project. We hope that after that there be more funding to continue the research, and so we ask permission to retain the samples for as long as there is funding.

Who will be the user my child's data ?

All participating groups representing clinical centres from nine EU countries. Research groups from outside this project can also see the anonymous clinical data contained within the European Registry on AHC , after they have expressed their legitimate interest and they have received an authorisation by us.

Will it be used for any of the following purposes?

Commercial research No. Research into diseases other than AHC No. Any forensic purpose No

Can I consent to just a part of the study?

Yes, you can. For example, you may consent to being in the Registry but not want to consent to research on your child DNA sample. If you do not wish all you child details to be in the Registry we will ask if you will allow us just to record minimal anonymised facts for the purposes of counting patients.

Are there any direct benefits to my child or to me of taking part in this research?

No. This research will be of benefit to future patients with AHC and possibly your child in the future who, we hope, will have better treatment.

What are the possible disadvantages and risks of taking part?

We do not believe there are any risks at all.

Where can I find more information about AHC?

There is a web-site: www.enrah.net

What if new information becomes available?

If additional information about AHC becomes available during the course of the research it will be posted on the website.

What if something goes wrong? 

If you wish to complain, or have any concerns about any aspect of the way you have been approached or treated during the course of this study, the normal National Health Service complaints mechanisms should be available to you.

What will happen to the results of the research study?

Results from this study will be published in papers published in the medical literature. Reports of the progress of the study, and of any papers published, will appear on the website, www.enrah.net. You will not be identified in any report or publication.

Who is organising and funding the research?

This project is funded by the European Union. The names of the centres and the doctors participating are all on the web-site.

Who has reviewed the study? 

The local Ethical Committee Contact for Further Information Further information can be obtained from.

ENRAH, Vienna, Austria Or the website at www.enrah.net