The aim of OPTIMISTIC:
Improve clinical practice for patients suffering from myotonic dystrophy type 1 (DM1) 

Exercise training or therapy can take many different forms. For some people it may be moving more and sitting less and for others it may mean getting on a bike, jogging or lifting weights. The ultimate goal is to use physical activity to improve health and wellbeing. Physical activity and physical fitness are known to be associated with achieving lifelong health and wellbeing. Leading a more active lifestyle can influence many aspects of everyday life; from how much an individual socialises to their cardiac health and function.  However maintaining a physically active lifestyle poses greater challenges when faced with neuromuscular diseases such as DM1.

 

Exercise therapy can be used not only to promote an active lifestyle but also to encourage a change in behaviour and improve quality of life.

 

Why can it help DM1?

The main aims of exercise therapy in OPTIMISTIC are to:

  • Promote an active lifestyle.
  • Improve skeletal muscle function.
  • Reduce Fatigue.
  • Assess cardiac function.
  • Improve quality of life.

 

OPTIMISTIC will use expertise from a range of sources to develop a pathway that can be used and repeated in other clinical settings. Experts involved in this project have previously developed an online disease specific tool for diabetes type 2 and aim to achieve the same for people affected by DM1. The pathway will be developed for both professionals and patients in order to continue development beyond the trial.  

 

The OPTIMSTIC trial will use exercise therapy not only to improve muscle function and quality of life but also to address clinical needs about cardiac safety.

 

To find out more about OPTIMISTICs aims for improved cardiac screening click here.

 

Further Information

In this section you can find out more about exercise therapy and how it has been used in previous trials. MoveLab is the interdisciplinary centre that is in charge of the exercise therapy in this trial. For more information: www.movelab.org

Cognitive behavioural therapy (CBT) is a type of psychotherapy. CBT emphasises how a person responds to problems both through the way they think and act. CBT is a coaching process that can help an individual to change unhelpful thoughts and behaviour. By learning to change behaviour and ways of thinking you can manage problems better. In order to change a person must be actively involved in the therapy and practise with new ways of coping with daily life. The therapy is aimed at the present and tries to find practical ways to deal with symptoms and problems. Specific goals are formulated as part of the therapy; the individual and therapist work together in reaching these goals. These principles can be used to help people with long-term health conditions.


How can CBT help patients with DM1?

CBT can help people to learn new behaviours and ways of coping with the symptoms of the disease.  This therapy can help to reduce symptoms such as fatigue and help people to deal with these symptoms better. By doing so the negative impact conditions such as DM1 has on daily life can be reduced.  

 

CBT in OPTIMISTIC aims to:

  • Reduce fatigue by changing the thoughts and behaviour that can unintentionally maintain fatigue. Examples of these are changing your sleep-wake pattern or trying to increase the level of physical activity. This approach has been successful in reducing fatigue in people dealing with a range of other chronic diseases.
  • Teach people how to compensate for problems in taking initiative or starting an activity, e.g. by learning to schedule your activities. 
  • Work together with significant others to discover how to best manage the impact DM1 has on daily life.

 

The OPTIMISTIC trial will develop a protocol that is tailored specifically to people with DM1. The value of this new treatment for DM1 will be tested throughout the OPTIMISTIC trial. We hope that this will enable patients to become more active and better deal with the symptoms of the illness. In doing this we aim to improve quality of life.

DM1 is the most common adult muscular dystrophy worldwide. It is a complex and variable disease that effects people in many different ways. The condition affects multiple organs and multiple systems within the body.

 

Symptoms include:

  • Muscle weakness (e.g. in the face, neck, hands and forearms);
  • Myotonia (cramping, difficulties in releasing grip, etc.);
  • Trouble swallowing;
  • Cataracts (blurry or cloudy vision) and other eye problems;
  • Heart Conditions (e.g. arrhythmia);
  • Tiredness and daytime sleepiness;
  • Problems with planning and thinking.


Why DM1?

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.

 

Management of DM1

DM1 affects thousands of people across Europe and globally, however there is currently no treatment to slow down, prevent or cure most of the symptoms. Appropriate care and support can make a great difference to help those affected. It is recommended that adults with the condition should see a neurologist at least once a year and in addition appropriate treatment should be provided for different symptoms; such as seeing a cardiologist for heart conditions or an ophthalmologist for eye problems.

A meeting of international experts was held in 2009 which highlighted the need for improved standards or care and treatment for people with DM1. OPTIMISTIC hopes to further highlight the need for better care and suggest innovative ways to treat and improve the management of patients with DM1. You can download the report here.

 

Genetics of DM1

DM1 is an autosomal dominant inherited disease. This means that if you carry a specific mutation there is a 50 % likelihood it will be passed on to your children. DM1 is caused by the repetition of a certain segment of the DMPK gene. This repeat causes the expansion of the DNA making it unstable; the triplet repeats is found about 35 times in an unaffected person but expands from over 50 to several thousand in people with DM1. There is generally a correlation between the number of repeats and the severity of the disease. However patients with the same number of repeats can be very differently affected.

DM1 also follows a phenomenon known as “anticipation” in which the repeat number increases with generation. For example a grandparent with DM1 will have a lower repeat number than their grandchildren. This means that younger generations are often more severely affected and earlier in life.


For more information about organisations that provide help and support for people with myotonic dystrophy please go to the “help and support” section of the website.

 

OPTIMISTIC is focusing on myotonic dystrophy type 1 (DM1), however it also exists in type 2 (DM2). You can find out more about myotonic dystrophy type 2 here.

For patients in the UK     Für Patienten in Deutschland

 

The trial site is NEWCASTLE UPON TYNE, Royal Victoria Infirmary Die beteiligte Klinik ist das Friedrich Baur Institut in München.
Principal Investigator: Dr Grainne Gorman

Principal Investigator: Prof Benedikt Schoser 

   
Contacts: Kontaktpersonen:
Research Nurse: Jan Gebbie Zuständiger Arzt: Dr. Stephan Wenninger
Phone 0191 2 82 00 70 Telefon  089 440 05 74 00
Email jan.gebbie[at]newcastle.ac.uk Email Stephan.Wenninger[at]med.uni-muenchen.de
Registry Curator: Libby Wood  
Phone 0191 241 8640  
Email Elizabeth.wood1[at]ncl.ac.uk  
Downloads:

Patient Flyer

Patient Information

Carers information

Downloads:

Flyer für Patienten

Weitere Informationen für Patienten

Informationen für Angehörige

 

 

   
Voor patiënten in Nederland                                                    
Pour les patients français                                        
                                       

Locatie: Radboud umc, Nijmegen                                 

Le site d'essai: Hôpital Henri Mondor Créteil

Principal Investigator: Prof Dr Baziel van Engelen

Principal Investigateur: Dr Guillaume Bassez

           

Contactgegevens:

Contact person:

Polikliniek assistent: Yvonne Cornelissen

Pascale Chevalier

Telefoon: 024 3 61 66 00

Tel : 01 45 17 80 93

Studiecoördinator: Marlies van Nimwegen

        Email This email address is being protected from spambots. You need JavaScript enabled to view it.

Onderzoeksbureau Neurologie

 

Telefoon: 024 3 65 57 87

 
Email optimistic.neuro[at]radboudumc.nl  
Downloads:                             

Samenvatting

Mantelzorger Informatie

Patient Informatie

 

 

 

 

Downloads:                             

Prospectus patient

Note d’information patient

Note d’information aidant                            


 

 

 

 

 

 

 

 

 

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Until you give your consent, only those cookies necessary to maintain the website's functionality are active. When you choose "OK", so called third-party non-functional cookies (e.g. GDPR-conform Google Analytics) may also become active. Please be aware that the website's functionality may be restricted if you choose "DECLINE". You can revoke your choice at any time by clearing your browser cache/history and updating your selection. Please also view our privacy policy.
Ok Decline