Target Research - 1 of 2015

Muscular Dystrophy UK’s research magazine Issue 1 of 2015

Research Target

The role of animals in research

Professor Dominic Wells talks about the importance of animal models in research page 4

Highlights from the 19th World Muscle Society Congress The focus of the 2014 meeting was on autophagy page 10

Research news A round up of news stories from around the world page 8

Glossary Animal model – a laboratory animal such as a mouse or rat that is useful for medical research because it has specific characteristics that resemble a human disease or disorder.

Biopsy – the removal of a sample of tissue (such as muscle) from the body. The tissue is examined under a microscope to assist in diagnosis.

DNA – (deoxyribonucleic acid) is the molecule that contains the genetic instructions for the functioning of all known living organisms. DNA is divided into segments called genes.

Dystrophin – the protein missing in people with Duchenne muscular dystrophy and reduced in those with Becker muscular dystrophy. Dystrophin is important for maintaining the structure of muscle cells.

Exon – genes are divided into regions called exons and introns. Exons are the sections of DNA that code for the protein and they are interspersed with introns which are also sometimes called ‘junk DNA’.

Exon skipping – a potential therapy currently in clinical trial for Duchenne muscular dystrophy. It involves ‘molecular patches’ or ‘antisense oligonucleotides’ which mask a portion (exon) of a gene and causes the body to ignore or skip-over that part of the gene. This restores production of the dystrophin protein, albeit with a piece missing in the middle.

Gene – genes are made of DNA and each carries instructions for the production of a specific protein. Genes usually come in pairs, one inherited from each parent. They are passed on from one generation to the next, and are the basic units of inheritance. Any alterations in genes (mutations) can cause inherited disorders.

Mdx mouse – a mouse model of Duchenne muscular dystrophy. These mice have a mutation in the dystrophin gene - the gene that is mutated in boys with Duchenne. The muscles

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of these mice have many features in common with the muscles of boys with Duchenne muscular dystrophy.

Molecular patch – a short piece of genetic material (DNA or RNA) which can bind to a specific gene and change how the code is read. Also called an antisense oligonucleotide.

Morpholino antisense oligonucleotide – antisense oligonucleotides are small pieces of DNA which can bind to a specific piece of genetic code and change how the code is read. They are termed morpholino if the small pieces of DNA have been chemically modified so that they are not easily degraded by the body. They can be used as a ‘molecular patch’ to overcome small errors in the genetic code, or to block parts of the gene.

Mouse model – see animal model.

Mutation – a permanent change in the DNA code that makes up a gene.

Depending on where the mutation occurs, and the type of mutation, they can either have no effect or result in genetic diseases such as muscular dystrophy. Mutations can be passed on from generation to generation.

Nonsense mutation – a change in the DNA which causes a premature stop signal to occur in a gene. When this happens the protein is not produced.

Phase 1 clinical trial – a small study designed to assess the safety of a new treatment and how well it’s tolerated, often using healthy volunteers.

Phase 2 clinical trial – a study to test the effectiveness of a treatment on a larger number of patients. Participants are usually divided into groups to receive different doses or a placebo.

Phase 3 clinical trial – a multicentre trial involving a large number of patients aimed at being the definitive assessment of how effective a treatment is prior to applying to the regulatory authorities for approval to make the treatment widely available.

Placebo – an inactive substance designed to resemble the drug being tested. It is used to rule out any benefits a drug might exhibit because the recipients believe they are taking it.

Protein – molecules required for the structure, function, and regulation of the body’s cells, tissues, and organs.

Our bodies contain millions of different proteins, each with unique functions.

The instructions for their construction are contained in our genes.

Six-minute walk test – a standardised way of measuring a patients mobility.

It involves measuring how far a person can walk in six minutes.

Stem cells – cells that have not yet specialised to form a particular cell type, and can become other types of cell such as muscle cells. They are present in embryos (embryonic stem cells) and in small numbers in many adult organs and tissues, including muscle.

Utrophin – a very similar protein to dystrophin. Low levels of utrophin are present in everyone – including people with Duchenne muscular dystrophy – but in insufficient amounts to compensate for the loss of dystrophin.

References and further information Please contact us at research@ musculardystrophyuk.org if you would like any further information or a link to the original research article. The articles are written in technical language with no summary in layman’s terms; and some may require a payment before they can be viewed.

Disclaimer While every effort has been made to ensure the information contained within Target Research is accurate, Muscular Dystrophy UK accepts no responsibility or liability where errors or omissions are made. The views expressed in this magazine are not necessarily those of the charity.

ISSN 1663-4538 Muscular Dystrophy UK 61A Great Suffolk Street, London SE1 0BU 020 7803 2862 info@musculardystrophyuk.org www.musculardystrophyuk.org

Target Research 2015

Welcome Hello and welcome to the first edition of Target Research of 2015. First of all, let me introduce myself. I am Özge and I am the new editor of Target Research. I am taking the role over from Neil Bennett who has gone to pastures new in Cambridge. My background is in research and I am fresh out of the lab.

Therefore I am hoping to be able to report important developments in the world of muscle research to you under a new light.

You will notice that our name has changed to Muscular Dystrophy UK and that we have a new logo. Our supporters advised that being called “Campaign” suggested a single issue short term organisation, hence our name change. The change will also be reflected on our website and of course the new look Target Research.

In this issue you will be able to read about the role of animals in research and their vital role in understanding disease.

You will also find the highlights from the 19th World Muscle Society Congress that was held in Berlin last October. The focus of this meeting was on “autophagy”, the rubbish disposal system of the cell.

Finally you will be updated on some exciting research news stories such as genome surgery being tested in stem cells, licence applications on potential drugs and information about clinical trials.

I am very excited to be joining the charity at such an exciting time of change and I very much hope you will enjoy the new Target Research.

Dr Özge Özkaya Editor, Target Research 020 7803 4813 research@musculardystrophyuk.org @MDUK_News

Contents 5 The role of animals in research Professor Dominic Wells talks about the importance of animal models in research 7 The charity and animal research Our Director of Research, Dr Marita Pohlschmidt about animal research 9 Research news A round up of news stories from around the world 15 Highlights from the 19th World Muscle Society Congress The focus of this year’s meeting was on autophagy, the rubbish disposal system of the cell Follow us on: www.facebook.com/musculardystrophyuk Follow us on: www.twitter.com/MDUK_News

www.musculardystrophyuk.org/research

About us We are the UK charity for people affected by more than 60 different muscle-wasting conditions.

We support research to drive the development of effective treatments and cures for all conditions.

We ensure access to specialist NHS care.

We provide services and opportunities that enable individuals and their families to live as independently as possible.

We know we can beat muscle-wasting conditions more quickly if we work together. We are uniting skills, knowledge and resources in the UK and working with others around the world so we can improve the quality of life for the people affected, and bring cures closer to reality.

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The role of animals in research Professor Dominic Wells explains the role of animals in understanding the causes of disease and in testing new treatments.

Animals play a vital role in understanding the causes of disease and in testing new treatments. Currently most research starts with clinically examining the disease in patients then comparing cells from the patient with cells from healthy individuals.

We look for differences in the genes from the two types of cells, differences in the products of the genes and how the cells grow and change into their final form. We can expose the cells to drugs or make genetic modifications to see how these change the cells of the patient and whether these changes make the cells more like those from healthy volunteers. However, for muscle diseases, such cell cultures do not represent the complex 3-dimensional structure of a working muscle with its interactions with blood vessels, nerves and other cell types.

there are good techniques for altering the genes of mice and so it has been possible to generate a large number of mouse models of human diseases. In some cases disease causing genetic modifications occur naturally, for example the mdx mouse model of Duchenne muscular dystrophy (DMD). Mice are small, easy to house, breed well and are cheaper to work with compared to large animals. However, mice are very tough and may not show potential side-effects of the treatment. In some cases it is possible to use a larger animal model, for example there are dog models of DMD, although these are used quite infrequently. The animal models of disease are used to show that the treatment is effective but additional tests for harmful side effects in normal animals are required before a drug is allowed to be used in a human trial.

In such regulatory toxicity testing the usual animals are rats and dogs or monkeys.

If we know the characteristics of a drug then we can use computer models to predict how it will be distributed throughout the body and whether it may be suitable for treating the disease in question when given to man. Unfortunately, in many cases with a new drug, such information will not be available and in addition the predictions which are derived from normal animals may not apply in disease. Therefore, in these cases we need to use an animal model of the human disease to assess the potential of a treatment to be clinically effective.

“Mice are small, easy to house, bread well and are cheaper to work with compared to large animals�

Most of the animals used in research are mice or rats. Mice are particularly useful as

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The use of animals in research in the UK is controlled by national legislation through the Animals (Scientific Procedures) Act, or ASPA for short. This requires that the place of the research is of an appropriate standard (Establishment Licence), the plan of work is approved (Project Licence) and the individuals carrying out the work have been appropriately trained (Personal Licence). From 2013 a closely related set of regulations have been in force across Europe but different rules apply elsewhere in the world. In the UK the operation of ASPA is controlled by the Home Office, which has veterinary or medically trained Inspectors who determine if Licences should be granted. They can also conduct unannounced inspections of any approved establishment. Central to this regulation is a careful consideration of the harm to the animals weighed against the potential benefit to man (or other animals). Scientists are required to replace animal work with other methods wherever possible, to

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reduce the number of animals used to the minimum necessary to obtain reliable results and to refine the experimental procedures to minimise any pain and suffering. Thus we can rightly claim to have one of the best systems in the world for controlling the use of experimental animals and ensuring their welfare.

“The use of animals in research in the UK is controlled by national legislation through the Animal (Scientific Procedures) Act�

Much of the work in my laboratory to test potential treatments for DMD uses the mdx mouse, a mild model of DMD. The mice show no obvious clinical signs of the disease but have characteristic dystrophic changes in the structure and function of their muscles. In many cases the test medication can be given in the food or water. At the end of the treatment, invasive procedures, such as assessment of muscle function, are

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only undertaken under deep anaesthesia and mice stay asleep until they are killed for further examination of their muscles. Thus the mice experience little, if any, discomfort as a result of the experiment.

“Without these experiments we would not be able to design rational approaches to the development of new drugs�

Much of what we know about the details of the different events associated with the loss of dystrophin in DMD has been derived from work with the mdx mouse.

Without these experiments we would not be able to design rational approaches to the development of new drugs. Some drugs such as the morpholino antisense molecules used to induce exon-skipping (gene patches) and the restoration of dystrophin in the muscle, which are in late stage clinical trials, would not have been used based on the results in cell culture. It was the demonstration of their effectiveness in the mdx mouse that drove the development of this form of treatment for DMD. Although there are ethical and financial reasons to minimise the use of animals in research, they are currently an invaluable element in achieving a greater understanding of human diseases and the development of treatments, particularly for rare diseases.

Professor Dominic Wells Royal Veterinary College

The charity and animal research As you might have read in the article of Professor Dominic Wells on the previous pages, it is vital to test new treatments on animals before they are taken into clinical trials and these experiments are tightly regulated here in the UK. They will tell the scientists how effective potential treatments are and will give them an idea about the possible side effects. Taking a new drug directly from the laboratory into a clinical trial to test it in a human being would be irresponsible and dangerous.

There are currently no treatments available for most of the muscle wasting conditions but there are now a number of promising ones in clinical trial. Most of them are newly developed technologies where the researchers had no idea how they would work in a living organism. Exon skipping, for example, is a technology originally specifically developed for Duchenne muscular dystrophy.

The researchers had no experimental data that they could fall back on and therefore the use of animals was unavoidable.

Muscular Dystrophy UK has always been transparent with regards to funding research that includes animal experiments. However we also endorse the 3Rs which stand for replacement, reduction and refinement.

Scientists are reminded to replace animal experiments whenever possible, reduce the number of animals to a minimum and refine their experiments to minimise suffering and improve animal welfare.

I hope you agree with me that animal experiments are invaluable for every aspect of developing treatments for any of the 60 muscle wasting conditions we support.

Without them there will be no progress.

Dr Marita Pohlschmidt Director of Research, Muscular Dystrophy UK

www.musculardystrophyuk.org/research

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DNA molecule

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Target Research 2015

Research news Genome surgery tested in stem cells A group of researchers in Japan and the USA have tested a new technology in the laboratory to repair the genetic defect in stem cells of individuals with Duchenne muscular dystrophy. The research is at an early stage but if successful, has the potential to develop into a long-lasting treatment that in the future, could produce healthy muscles in people with the condition.

In a series of experiments the researchers tested the efficiency of a new technology called genome surgery to repair the genetic defect in cells grown in the laboratory from individuals with Duchenne muscular dystrophy. The technique uses “molecular scissors” to cut the DNA in the dystrophin gene at the site of the mutation.

Although the “molecular scissors” are carefully designed to cut the DNA only in the dystrophin gene the researchers also tested whether they damage the DNA in other unexpected places. This could lead to mutations in other functional genes that would have detrimental effects.

For the experiments, the researchers used skin cells from individuals with Duchenne muscular dystrophy that were grown in the laboratory and re-programmed to become stem cells again – so-called “induced pluripotent stem cells”.

Encouragingly, the “molecular scissors” were able to cut the DNA of the dystrophin gene in a great number of these stem cells which led to the repairing of the mutation. Importantly, minimal cutting of DNA in other places was observed which means that this technology is safe enough to be further developed.

The development of stem cell therapies has huge potential to develop into powerful

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treatments but is currently in its infancy.

The preferred approach would be to use somebody’s own stem cells because the immune system would react to any cell coming from a different person. However, each cell from an individual affected by a genetic condition carries the genetic defect.

Genome surgery is able to repair the mutation in stem cells and would allow the use of patients’ own stem cells. However, it is important to note that this research is still at an early stage and researchers have only tested the technique in the laboratory.

Further testing of the effectiveness and safety of the technique will therefore be required before researchers understand fully whether it can be used as a therapy that could be tested in clinical trials.

Faster access to treatments Muscular Dystrophy UK has set up the Fast Forward campaign, which is committed to pressing for the speeding up of access to potential treatments for muscle-wasting conditions.

With possible treatments for some conditions on the horizon, it is now crucial that access to any new drugs is as swift as possible. Many muscle-wasting conditions progress rapidly and patients and their families cannot afford unnecessary delay.

The Fast Forward campaign presses for faster access to potential treatments, investment in clinical trials and infrastructure and support for comprehensive and consistent care and treatment.

The campaign is supported by families, clinicians, researchers and politicians across the UK.

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Professor Dame Kay Davies of the Department of Physiology Anatomy & Genetics, University of Oxford, said: “With therapies finally coming to the market, it is clearly vital we gain the necessary approval and funding to get treatments to patients.

I whole-heartedly endorse the Muscular Dystrophy Campaign’s approach. They are working with regulatory bodies, such as the European Medicines Agency, NICE and NHS England, along with the biopharma industry, to tackle these important issues.”

However, Muscular Dystrophy UK would like to stress that this treatment has only been tested in animals, not in people with Duchenne muscular dystrophy.

Consequently, patients need to be fully aware that there may be potentially harmful side effects associated with the drug’s use in humans, which have not yet been identified.

For more information about the Fast Forward campaign, please see our website: http://bit.ly/fastforwardcampaign

Phrixus’ announcement on Carmeseal-MD for Duchenne muscular dystrophy In a recent press release, Phrixus Pharmaceuticals announced early access on a named-patient basis for their product Carmeseal-MD (Poloxamer 188, NF).

The drug would be available to people with Duchenne muscular dystrophy to potentially treat symptoms associated with breathing and the heart, but the drug could only be prescribed by a speciality clinician as an unlicensed drug.

Professor Dominic Wells, Royal Veterinary College, London said: “Carmeseal-MD has not yet been tested in clinical trials in people with Duchenne. It has shown positive results when tested in animal models of Duchenne and was shown to improve breathing and heart function. However, in a recent study carried out by my group, in the mouse model it was shown that it can cause increased weakness of skeletal muscles.”

Patients wanting to request access to Carmeseal should contact their clinician in the first instance.

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Ataluren (Translarna™) phase 2b clinical trial results published The results of a phase 2b clinical trial of ataluren (Translarna™) have been published in the peer-reviewed journal Muscle and Nerve. The encouraging results suggest that boys who received ataluren for 48 weeks could walk further than those who received a placebo. Ataluren (Translarna™) has been granted conditional approval in the EU and PTC Therapeutics, the company that developed ataluren (Translarna™), is now conducting a phase 3 trial to confirm the effectiveness of the drug.

Muscle and Nerve has published the results of the phase 2b clinical trial of ataluren (Translarna™) in boys with Duchenne muscular dystrophy caused by a nonsense mutation.

The trial compared two doses of ataluren to placebo and monitored the progression of the condition over 48 weeks. Both doses of the drug were found to be safe and well-tolerated.

At the end of the trial, boys who received a low dose of ataluren could walk, on average, approximately 31m further than boys who

Target Research 2015

received a placebo (an inactive substance that resembles the drug). However, because the effects of Duchenne muscular dystrophy can vary widely between individuals, it is important for researchers to use statistical tests to ensure that the differences they measure are a result of treatment and not natural variation. After 48 weeks, the statistical tests could not confirm that ataluren was responsible for the increase in the distance boys walked.

As well as measuring the distance boys could walk in six minutes, clinicians also used a range of timed muscle function tests - for example how quickly an individual can climb or descend four stairs or how long it takes an individual to stand up from lying on the floor.

Importantly a similar trend was seen in these tests as in the six-minute walk test.

The results of this clinical trial are encouraging, and formed part of the information that PTC Therapeutics presented in support of a licencing application for ataluren (Translarna™). The drug was recently granted conditional approval by the European commission, with one of the conditions being that PTC Therapeutics must complete their large, ongoing phase 3 trial of the drug to confirm the encouraging results observed in the phase 2b study.

Unfortunately, NHS England has recently halted the assessment of ataluren (Translarna™) as a drug to be offered to patients on the NHS. We are making a huge effort to make sure Translarna™ is available to eligible boys without delay.

Please see our website for more information. http://bit.ly/translarna

Sarepta update on eteplirsen licence application Sarepta Therapeutics has issued a press release announcing the outcome of its recent meetings with the Food and Drug Administration (FDA) – the drug regulator in the USA – regarding eteplirsen. The regulator has asked the company to supply further data, which the company hopes to acquire in time to submit a licence application in 2015.

The FDA recently held a meeting with Sarepta Therapeutics about the company’s plans to submit an application to license eteplirsen. The regulator asked Sarepta Therapeutics to provide more data about the safety and effectiveness of the potential drug before applying for a licence.

The FDA has asked the company to verify, using independent scientists, the amounts of dystrophin found in muscle biopsies from boys taking part in the Phase 2b open label extension study. It has also asked the company to perform further safety tests of eteplirsen in new individuals and to provide more natural history data and MRI data that may help demonstrate the effectiveness of eteplirsen.

The company has stated it will continue to work towards submitting a licence application for eteplirsen in the USA and hopes to have the required data by mid-2015.

Summit recruiting for new clinical trial Summit Therapeutics (a biopharma company based in Oxford) has started recruiting participants for a new clinical trial. This phase 1b study will test SMT C1100 in boys with Duchenne muscular dystrophy, when they are on a particular diet.

SMT C1100 was designed to increase levels of utrophin in the muscles. Researchers believe this may compensate for the lack of functional dystrophin found in Duchenne

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and Becker muscular dystrophy, regardless of the mutation.

This announcement of Summit Therapeutics follows a successful clinical trial earlier this year, which showed SMT C1100 to be safe and well-tolerated in boys with Duchenne muscular dystrophy.

The new trial aims to test whether a particular diet will improve SMT C1100 levels in the bloodstream and help with take-up of the drug into muscle.

Researchers have started recruiting 12 boys between the ages of five and 13, at four UK NHS hospitals. Each boy will receive a placebo and two different doses of SMT C1100 for 14 days, with a 14-day pause between each of three treatment periods.

As well as monitoring the safety and tolerability of the drug, clinicians will measure the amount of the drug entering the bloodstream. In addition, they will also measure changes in an enzyme, which is a marker of damaged muscle fibres.

Summit Therapeutics said it would announce the results of this trial in mid-2015. If successful, it will be followed by a Phase 2 trial to test the benefit of SMT C1100 and to monitor its safety over a longer period of time.

Glyn Edwards, Chief Executive Officer of Summit Therapeutics, said: “We believe it is possible to enhance absorption of SMT C1100 through dietary means and this new patient trial is designed to test this so that we can confidently evaluate the efficacy of utrophin modulation in subsequent clinical trials. We believe that utrophin modulation has the opportunity to benefit all boys with DMD [Duchenne muscular dystrophy] and we are working to ensure this molecule has the best chance to reach the market through a well-designed clinical path.”

Utrophin Alliance. This strategic partnership between Summit Therapeutics and Oxford University was established to speed up the development of treatments for Duchenne muscular dystrophy. The charity currently funds research projects in Professor Kay Davies’ and Dr Angela Russell’s laboratories in the search for more efficient drugs with the potential to raise utrophin levels.

Muscular Dystrophy UK has funded Professor Kay Davies’ research into utrophin for more than 25 years. It is thought that utrophin, a protein naturally present in our body in small amounts, may be able to compensate for the lack of dystrophin in boys with Duchenne muscular dystrophy, since both proteins are structurally similar and appear to have very similar functions. In collaboration with Summit Therapeutics, Professor Davies’ laboratory discovered and developed SMT C1100 to increase levels of utrophin in the body.

The results of the trial are encouraging, as the drug has the ability to treat so many boys. Unlike other approaches such as exon skipping, SMT C1100 may have the potential to treat all boys with Duchenne or Becker muscular dystrophy, regardless of their genetic mutation.

Muscle biopsy

Muscular Dystrophy UK works closely with the

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Target Research 2015

Drisapersen licence application starts in USA In a press release issued in December, the pharmaceutical company Prosensa has announced that they have started the process of applying for a licence to market Drisapersen in the USA. Drisapersen is a molecular patch that skips exon 51 of the dystrophin gene and has been tested in clinical trials in boys with Duchenne muscular dystrophy.

The potential drug was granted “Breakthrough Therapy” status in June 2013. The status can be awarded by the Food and Drug Administration (FDA) - the drug regulator in the USA - to potential treatments that show encouraging results in clinical trials. It means that the company will benefit from increased support from the FDA to ensure that drug development, and clinical trials, can be handled as quickly and efficiently as possible.

Drisapersen has also received “Fast Track” status from the FDA. This will give Prosensa

access to “Rolling Review” - a process whereby the FDA assesses each part of a licencing application as the company submits it, instead of waiting for the entire document to be submitted and carrying out a single assessment of the whole application.

Prosensa has begun the process of applying for a licence for Drisapersen. The FDA would then complete its assessment of the application and decide whether or not to give approval to the drug. Importantly, if a licence is granted by the FDA, it will only be valid in the USA. For the drug to be licenced in Europe, Prosensa would need to apply to the European Medicines Agency separately.

In January 2015 BioMarin pharmaceuticals purchased Prosensa and agreed to make further payments if Drisapersen is licensed in the USA by 15 May 2016 and Europe no later than 15 February 2017. We will keep you updated on any developments in this matter as we find out more.

Diagram explaining how exon skipping works

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Highlights from the 19th World Muscle Society Congress From 7 to 11 October 2014, the annual international conference of the World Muscle Society took place in historical medical buildings close to the well-known Charité complex in Berlin, Germany. Over four days, more than 500 scientists and clinicians from all over the world came together to discuss the latest research advances in the field of neuromuscular disease.

A focus of this year’s meeting was on new insight into a biological mechanism called autophagy, which is best described as the rubbish disposal system of the cell. If this is not working properly, a lot of proteins and compounds the cell no longer requires are not appropriately disposed of.

In this context, a newly emerging and growing group of conditions that are characterised by an accumulation of mostly proteins with an unknown function in the muscle was discussed. The protein accumulation causes muscle weakness and wasting and the severity of the symptoms varies greatly between affected individuals.

Occulopharyngeal muscular dystrophy, some types of limb

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girdle muscular dystrophy and congenital myopathy belong to this group. Little is known about the underlying molecular mechanism causing this protein accumulation, but researchers are now suggesting that in some cases autophagy might play a role.

Progress on research into limb girdle muscular dystrophy was also in the spotlight in Berlin and Prof Volker Straub from Newcastle University gave an excellent overview on the recessive forms of this group of conditions. There are now more than 25 genes known to cause limb girdle muscular dystrophy and there will soon be no characters left in the alphabet to give each sub-type its own letter.

Great advancements were reported on research into potential treatments for limb girdle muscular dystrophies.

The diversity of this group makes it necessary to develop a range of different therapeutic approaches including the delivery of functional genes to muscle cells using a virus and adaptations of exon skipping technology. Scientists expect that several of these therapeutic approaches will soon be tested in clinical trial.

The third topic – the advancement of treatments – has been a constant topic at the conference for several years. However, for the first time the pharmaceutical industry had a noticeable presence and several industry symposia took place in the evenings or early mornings.

The main focus was Duchenne muscular dystrophy.

The symposia covered a range of therapeutic approaches and researchers talked not only about the latest results of clinical trials, but also about the next steps once the first treatments reach the clinic.

“A precise genetic diagnosis as well as a true multidisciplinary approach to care will be vital to ensure the full benefit of the treatments are achieved.”

The next annual conference of the World Muscle Society will take place in Brighton in September 2015 and will mark the 20th anniversary of this internationally renowned meeting. It was started 20 years ago by Professor Victor Dubowitz, with the first meeting taking place in the UK. We are very happy that it will return to its place of origin for this special date.

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Muscular Dystrophy UK is the charity bringing individuals, families and professionals together to beat muscle-wasting conditions. We’re providing a range of services and opportunities to help people live as independently as possible.

We’re working with world-class researchers and won’t stop until we find treatments and cures for all our conditions.

We’re a first port of call for 4,000 families in the UK newly-diagnosed with muscle-wasting conditions every year. We offer a personal support system at their point of need, with a specialist helpline and free information.

Being here for families is only possible thanks to fundraising activities like yours.

Muscular Dystrophy UK 61A Great Suffolk Street London SE1 0BU 0800 652 6352 (freephone) info@musculardystrophyuk.org www.musculardystrophyuk.org

Registered Charity No. 205395 and Registered Scottish Charity No. SC039445 Printed on PEFC paper, produced at a mill that is certified with the ISO14001 environmental management standard