UK Myotonic Dystrophy Registry Newsletter Issue 2 September

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1 UK Myotonic Dystrophy Registry Newsletter Issue 2 September REMEMBER TO KEEP YOU DETAILS UP TO DATE LOGIN AND CHECK TODAY IN THIS ISSUE Welcome to the second edition of the UK Myotonic Dystrophy Registry Newsletter. Our registry exists to find patients who are potentially eligible for clinical research and trials. It provides a tool to contact you quickly and efficiently about research you may be able to take part in. We have already contacted you about some of the exciting research taking place at the moment. The registry is becoming increasingly important as research progresses and we continue to move towards clinical trials. This newsletter brings you updates about the registry as well as the latest research developments from the myotonic dystrophy community. 1. Update your record. 2. FAQs 3. Patient Organisations 4. Statistics 5. Research updates 6. Standards of Care 1. Update your record If you registered recently or if you ve been enrolled right from the start it s important to check you have completed everything you can. Here is a quick list of what to look out for when updating your details: You have chosen a doctor. You have completed all questions and not left any questions unspecified You have completed your annual update, even if nothing has changed. You have notified us of any changes to your e- mail address, phone number or postal address. It is important to keep your details up to date. The registry is only as useful as the information it contains. Having the most up to date information means we can contact you with details of research and trials most relevant to you. It also allows doctors and scientists to learn more about the condition potentially designing research based on the information collected in the registry.

2 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue Frequently Asked Questions What is the difference between myotonic dystrophy type 1 (DM1) and type 2 (DM2)? 17% of people registered report they do not know their clinical diagnosis. If you are unsure about the type of myotonic dystrophy you have then please discuss this with your doctor. Here is some information about the different types within the registry. Myotonic dystrophy type 1 (DM1) Also known as Steinert disease, myotonic dystrophy type 1, is the most common form myotonic dystrophy amongst adults in the UK. Congenital Myotonic Dystrophy Congenital myotonic dystrophy is a sub- type of DM1 affecting children from birth (or within the first 4 weeks of life) symptoms can be different in the congenital form, but the underlying mutation is the same. Myotonic Dystrophy type 2 (DM2) Also known as proximal myotonic myopathy (PROMM) myotonic dystrophy type 2 is genetically unrelated to type 1; which means that both types do not occur within one family. Type 2 is very rare in the UK, estimated to make up around 5% of the total number of people with myotonic dystrophy. Question: What is your diagnosis, according to your doctor? DM2 2% Unknown 17% Congential 11% DM1 70% Figure 1: Most people in the registry report a diagnosis of DM1 with very few (2%) reporting DM2m, though a large number report an unknown diagnosis. Why DM? The internationally agreed abbreviation for myotonic dystrophy type 1 is DM1. This abbreviation comes from the Latin name dystrophia myotonica and is used to prevent confusion with MD a term used for all muscular dystrophies. Myotonic dystrophy type 1 is sometimes referred to as MMD for myotonic muscular dystrophy or as Steinert disease after the person who first described the condition.

3 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue 2 3 Your Doctor The information entered by your doctor is very important to the registry. Your doctor provides your genetic diagnosis as well as details about any problems you have with your heart or lungs. The registry receives lots of questions and queries about doctors and 35% of people have not yet selected a doctor. Below are some answers to the most common queries: Do I need to see a neuromuscular specialist or can my GP enter data into the registry? Myotonic dystrophy is a rare neuromuscular disorder. On average only 1 in 4 GPs will come across the condition in their entire professional life and this may then only be a single family. It is therefore recommended that you see a neuromuscular specialist at least once a year to ensure you receive the best possible care. It is this specialist that is best equipped to complete the required details in the registry. The Myotonic Dystrophy Support Group may be able to help you find a specialist in your area or alternatively the Muscular Dystrophy Campaign has a Freephone information line, , which can offer assistance. I see a neuromuscular specialist but they are not listed on the registry. If you currently see a neuromuscular specialist who is not listed on the registry then please contact the registry curator, ( full contact details on page 8) including the name and contact details of your doctor in your correspondence and we will contact them about the registry on your behalf. My doctor hasn t entered any information. You can view all of the information your doctor enters in your online account. If you notice your doctor hasn t entered any information then please contact the registry curator. Please also discuss the registry with your doctor at your next appointment, and why it is important to you. 3. Patient Organisations The MUSCULAR DYSTROPHY CAMPAIGN was founded in 1959 and is an important contact for people with a muscular dystrophy or related neuromuscular condition. They fund world class research and provide practical information, advice, and emotional support to people affected by all types of muscular dystrophy and related neuromuscular conditions. Dr. Marita Pohlschmidt (Director of Research) has played an influential role in the development of the Registry and the Muscular Dystrophy Campaign continues to provide funding. For more information: dystrophy.org The MYOTONIC DYSTROPHY SUPPORT GROUP is a volunteer led charity founded in 1989 and their mission is to offer assistance, support and information to people affected by myotonic dystrophy, their carers and their families. The support group continues to fund the registry and Margaret Bowler (the founder) has been an important contact throughout its development. For more information:

4 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue 2 4 QUICK STATS 77% Of patients with DM1 who are registered experience fatigue with a negative effect on daily activities. 51% Of people experience difficulties swallowing 49% Of patients with DM1 who have information entered by a doctor have problems with their heart. 76% Of people registered with DM1 experience myotonia (cramping/have difficulties releasing grip) 94% Of people registered with DM1 who have information entered by their doctor have a regular ECG. 26% Of people registered, who have information entered by a doctor, have undergone surgery to remove cataracts. 4. Registry Statistics We now have over 340 people registered an increase of over 100 people since the last newsletter in November A total of 60 doctors are also involved. With so many people involved the data within the registry provides a snapshot of the myotonic dystrophy community in the UK. Looking at this data may help to design future research projects and be used to develop a standard of care document as well as helping in the planning and recruitment of clinical trials. The UK registry is one of several for myotonic dystrophy across the world and is part of the TREAT- NMD network. We hope that soon the registry will be part of a global network increasing the information available and the number of participants available for clinical trials Female Age Range Male Figure 2: The age range of people registered is broad with the largest numbers being seen between 31 and 60 years old. The distribution of males to females is 49% males and 51% females in line with the general population. Figure 3: This map shows the location of the people registered. As you can see they are distributed across the country with some clusters around the South East (London) and the North East (Newcastle). Over 340 people are registered in total.

5 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue years years years 0-10 years years Question: At what age did the first medical problems occur that may be related to your myotonic dystrophy? This question is currently answered by doctors on behalf of patients in the registry. Myotonic dystrophy type 1 is traditionally an adult onset condition. As this chart shows the majority of people in the registry start experiencing symptoms between the ages of 11 and years years Knowing more about the age of onset is important as it helps doctors and researchers to understand how myotonic dystrophy progresses and how the age of onset affects the severity of symptoms experienced. Figure 4: Age symptoms relating to myotonic dystrophy first occured Can walk with assitance Can walk independantly Figure 5: Current best motor function No myotonia Cannot walk Mild myotonia Severe myotonia Figure 6:comparison of myotonia and dysphagia No Dysphagia Dysphagia Question: Which of the following options describes the best motor function you are currently able to achieve? This question is answered by patients and most people in the UK Myotonic Dystrophy Patient Registry are able to walk independently (without a walker, brace or cane). Your current best motor function is a good indication of your current muscle strength. This information helps researchers understand how muscle weakness progresses in myotonic dystrophy. The distance a person can walk within six minutes can be used as an indication of how successful a treatment in clinical trial is. Comparison: Occurrence of swallowing difficulties (dysphagia) compared against Cramping/difficulties releasing grip (myotonia) The information in the registry can be analysed in lots of different ways to help doctors and scientists understand more about myotonic dystrophy. This chart shows that people with severe myotonia experience swallowing difficulties (also called dysphagia) more than those with no myotonia. This comparison does not prove that the presence of the symptoms is related, but analysis like this can prompt ideas for future research.

6 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue Research Updates An international trial aiming to improve quality of life and reduce fatigue through a unique therapeutic approach. OPTIMISTIC is a collaboration between researchers and clinicians from France, Germany, Netherlands and the United Kingdom. OPTIMISTIC aims to improve clinical practice and standards of care for patients with myotonic dystrophy across the world. It will develop a unique therapy combining aspects of cognitive behavioural therapy (CBT) and exercise therapy in order to find new and innovative ways to reduce fatigue and improve quality of life. The project has been given 3million by the European Commission and will be coordinated by Professor Baziel van Engelen from Radbound University in the Netherlands. Over 200 patients will be involved in this project across Europe and recruitment is expected to start in early As well as the unique therapy researchers involved will also take samples of DNA and other molecules to learn more about myotonic dystrophy. The registry will be one method of recruitment used to help inform and recruit patients to the study and we will contact all people registered when recruitment starts. What would you have to do? There are many different aspects to this study and it will be explained in full before you to agree to take part. Some of the aspects involved are listed below: Provide blood and urine samples Have a muscle MRI scan Complete a number of questionnaires about your condition and how it affects you Undergo cognitive behavioural therapy (involving 5-10 visits to Newcastle) There will also be a control group for this trial, which means that some people won t receive the new potential therapy but will have to provide samples and complete questionnaires over 5 visits to Newcastle. This will help researchers to find out if the potential therapy works Inclusion Criteria for OPTIMISTIC: Genetically confirmed myotonic dystrophy type 1 (DM1) Over 18 years old Experience severe fatigue (so that it has a negative impact on daily life) Able to walk independently (use of cane allowed) Other criteria also apply and these would be discussed with you fully before starting the trial. Baziel Van Engelen is the coordinator for this project. First European trial for myotonic dystrophy Over 200 patients involved across Europe Newcastle will be the UK trial site. Recruitment should start early million awarded by the European commission dm.eu for more information

7 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue 2 7 Approx. 60 patients will be involved in this study The project is funded by the Muscular Dystrophy Campaign. Contact Nottingham Dr Saam Sedehizadeh: Telephone E- mail saam.sedehizadeh@nhs.net Prof David Brook: Telephone E- mail David.brook@nottingham.ac.uk Searching for a Treatment for Myotonic Dystrophy type 1 in Nottingham Dr. Saam Sedehizadeh has been awarded a three year Clinical Training and Research Fellowship by the Muscular Dystrophy Campaign. His laboratory research is being supervised by Professor David Brook at the University of Nottingham and his clinical training by Dr. Paul Maddison and Dr. Margaret Phillips are also involved. The research project will have two parts: Drug Screening Dr. Sedehizadeh is will screen a library of 5,000 drug- like chemicals for their potential to treat DM1. Using a specially devised drug screen consisting of cells grown in the laboratory, he will test whether any of the chemicals can reduce the problems caused at a molecular level in myotonic dystrophy. Biomarker Discovery/Natural History Study For clinical trials to be successful, it is important that researchers can measure how effective a treatment is. This can be achieved through measuring physical changes (known as outcome measures) or chemical/molecular changes (known as biomarkers). Dr Sedehizadeh aims to evaluate whether certain changes, both physical and chemical might be useful for monitoring the progress of myotonic dystrophy type 1 and whether these could be used to test the effectiveness of potential treatments in clinical trials. The Nottingham team is looking for volunteers to help with this part of the study.the registry has already contacted all patients who, according to registry data, may be eligible to take part in this study. If you missed this communication then please find more details below. Who can take part in this study? To take part you must have genetically confirmed myotonic dystrophy type 1 (DM1) and be over 18 years old. There are many different parts to this study; and you can take part in a reduced protocol if, for example, you have trouble walking, or would prefer not to have a needle biopsy taken. Dr Saam Sedehizadeh has been awarded a three year clincal fellowship by the Muscular Dystrophy Campaign to work on myotonic dystrophy What you would be expected to do. Undergo a number of tests once a year for three years. Tests carried out will include: Six minute walk test Tests of muscle strength and mass Breathing and swallowing tests Questionnaires Muscle biopsy Blood tests and cheek swabs.

8 UK MYOTONIC DYSTROPHY REGISTRY NEWSLETTER Issue 2 8 Contact Jacqueline Donachie. info@jacquelinedonachie.co.uk Telephone : Who can take part? Jacqueline would like to hear from people diagnosed with myotonic dystrophy who have a sibling who does not have the condition. What you would be expected to do. This study is very different from the others featured as it is an art project. You will be filmed, probably in your own home by Jacqueline. As part of the project you will be asked to talk about your experiences with myotonic dystrophy. The film will be shown publically and may be available on the internet. Jacqueline Donachie: An Artist and myotonic dystrophy Jacqueline is a PhD student at Northumbria University in Newcastle, working on a project called Illuminating Loss. The project will use film to explore the extent to which art works can challenge representations of experience in the fields of genetics and disability. Jacqueline has a number of family members affected by myotonic dystrophy and this has led her to produce a number of art works around the subject. She previously worked alongside scientist Prof Darren Monckton and produced a small book entitled DM. The book reflects the experiences of Jackie and her family as they learnt about the condition after a congenitally affected child was born in her family. Her new study will focus on siblings in which one is affected and the other not. All potentially eligible patients should have already received a communication through the registry. If you have not already heard about this study and would like to take part then please contact Jackie directly. Dates for your Diary Muscular Dystrophy Campaign Scottish conference Muscular Dystrophy Campaign National Conference October 5 th dystrophy.org October 12 th dystrophy.org IDMC- 9 October 16 th - 19 th 2013 Thank you for reading this newsletter, if you have any feedback or suggestions for the next issue then please contact the registry curator, Libby Wood. E- mail : myotonicdystrophyregistry@treat- nmd.eu Telephone: Post: TREAT- NMD Office Biomedicine West Wing International Centre for Life Newcastle Upon Tyne NE1 3BZ 25 th MDSG Annual Conference 9.org June 7 th ortgroup.org Login to the registry: registry.org/uk Reset your password. Read previous issues of the Registry newsletter.