For patients

Information For Patients

What is the BIO-NMD project?
BIO-NMD is an EU funded research project focusing on Duchenne and Becker muscular dystrophies and collagen VI-related myopathies (which includes Ullrich congential muscular dystrophy and Bethlem myopathy).

The project is searching for ‘biomarkers’ in people with these conditions. Biomarkers are substances in the body that offer a way to measure normal or abnormal processes in the body. This means that processes associated with particular diseases can be measured and disease progression monitored. It also means that the effect of drugs or other therapies on disease progression can be evaluated.

A biomarker may be a protein found in bodily fluids such as the blood or urine, or in tissues such as the muscles. Alternatively, a particular gene could be a biomarker. Different genes in our DNA are switched on and off as processes occur in the body, and measuring the activity of certain genes may be able to give an accurate picture of disease progression.

Where available, this search for biomarkers will use human blood, urine and muscle samples already stored in repositories called ‘BioBanks. New samples will be collected from patients if needed.

How might this benefit patients?
This research aims to improve the development of treatments and diagnosis of people affected by neuromuscular disease.

A major application of new biomarkers is in clinical trials. At the moment, when a new drug is being tested, researchers use a variety of ways to measure whether the drug has had a positive effect. One measurement used is the 6 minute walk test. However, these measures are not always very good at showing small changes and improvements in a patient's symptoms, especially when the drugs are only being tested for a short time.

However, if the BIO-NMD project can find biomarkers in patients' blood or urine, samples of these can be taken throughout clinical trials. Measuring the levels of these biomarkers will show researchers clearly and accurately whether the drug being tested has had an effect or not.

Other benefits of biomarkers include:
• Blood and urine testing may be able to replace the use of painful and invasive muscle biopsies in the future
• Diagnosis can happen earlier because testing for biomarkers is quicker and easier than genetic testing
• Disease progression can be accurately measured allowing better clinical management of symptoms
• Existing treatments (including drug dosage) can be adjusted to precisely meet the needs of individual patients to ensure they get the maximum benefit.

Why have Duchenne and Becker muscular dystrophies and collagen VI-related myopathies been chosen for the study?
Neuromuscular disorders include a large number of different conditions so studying them all at once would be impractical and expensive. The researchers therefore chose Duchenne and Becker muscular dystrophy and the collagen VI- related myopathies (Ullrich congenital muscular dystrophy and Bethlem myopathy) as a starting point. They chose these conditions because the genetic defects causing them are well characterised, and there is already a body of information available on how these genetic defects cause the symptoms.

These conditions are also representative of many other conditions because they include both early and late onset forms, fast and slow progression and severe and mild symptoms. In addition, a major advantage of researching these conditions is that they affect two different parts of  muscle cells which are also often affected in other conditions, so any biomarkers found may be more widely applicable. 

By focussing on a small number of conditions, efforts can be intensified to find biomarkers which can then be applied to other conditions. This was true for research into biomarkers for breast cancer which have then proved useful for other cancer types. The techniques and infrastructure set up during this project will also be applied to biomarker discovery for other conditions.

Who is representing patients?
BIO-NMD aims to work closely with patient groups throughout the project, ensuring that progress and results are disseminated as widely as possible. A Patient Association Committee (PAC) has been established to advise the Steering Committee on patients' needs and concerns and ensure appropriate and effective dissemination of information. Further details about the PAC can be found by clicking on this link: PAC members.
 
How is it funded?
BIO-NMD has been funded largely by the European Commission under the 7th Framework Programme for Research and Technological Development (FP7).

How long will it last?
The project is for 3 years in the first instance and is funded until Dec 2012.

Who is involved?
For projects like this to be successful, the collaboration of many professionals with different skills is required. There are 12 European partners involved in the BIO-NMD project. For example, some are well placed to collect and distribute patient samples and others are experts in studying genes or proteins, data analysis, animal models or project management.

The project will be coordinated by Prof. Alessandra Ferlini at the University of Ferrara in Italy. A full list of partners is given below. Click on the links for further details about each partner.

Professor Alessandra Ferlini, University of Ferrara, Italy
Dr Peter Bram’t Hoen, Leiden University Medical Centre, The Netherlands
Professor Volker Straub, University of Newcastle upon Tyne, UK
Professor Paolo Bonaldo, University of Padova, Italy
Professor Francesco Muntoni, Inst. of Child Health, University College London, UK
Professor Giuseppe Novelli, Tor Vergata University of Rome, Italy
Professor Christophe Béroud, National Health and Medical Research Institute, France
Professor Cecilia Gelfi, University of Milan, Italy
Professor Mathias Uhlen, Royal Institute of Technology, Stockholm, Sweden
Dr Nikolai Daraselia, Ariadne Genomics Inc.
Dr Simone Guenther, Applied Biosystems
Dr Loic Courtot, P2R, France

Further information and links
You can find more information about the conditions we are researching in the BIO-NMD project by clicking on the links below:
Duchenne muscular dystrophy
Becker muscular dystrophy
Ullrich congential muscular dystrophy
Bethlem myopathy

I have a question – who can I ask?
If you want to find out more about the BIO-NMD project, would like to comment on what we are doing or have a specific question you would like answered, please use the form below. Alternatively you can contact:

Marita Pohlschmidt, Director of Research, Muscular Dystrophy Campaign, UK
Tel: +44 (0)20 7803 4800; Email: 

Elizabeth Vroom, United Parent Projects Muscular Dystrophy, The Netherlands
Email: 

Anna Ambrosini, Fondazione Telethon, Italy
Email: 

Cathy Turner, Communications and Disseminations Officer BIO-NMD, UK
Tel: +44 (0)191 241 8659; Email: 

Acknowledgement
We wish to acknowledge Dr Kristina Elvidge (Research Communications Officer) and Dr Marita Pohlschmidt (Director of Research) at the Muscular Dystrophy Campaign for their help with communicating the complex work of BIO-NMD to a lay audience.

 

 

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