09 November 2006

PPUK held its 4th International Conference on 21-22 October. The event was aimed at informing parents of advances in research and care of Duchenne muscular dystrophy.

Saturday was spent listening to talks from leading international scientists about scientific advances in Duchenne muscular dystrophy. The day proved to be both enlightening and interesting with talks ranging from the importance of getting an accurate genetic diagnosis, to potential therapeutic strategies and clinical trial updates.

One of the highlights of the day was the updates on the exon skipping research with reports on the work being done in the UK and Australia as well as an update on the clinical trial that is ongoing in the Netherlands. Prof. Francesco Muntoni of Imperial College London brought us the latest news from the UK MDEX trial, reporting that they had recently passed a first hurdle having received approval from the Gene Therapy Advisory Committee (GTAC). They are currently awaiting approval for the trial from Medicines and Healthcare products Regulatory Authority. The Dutch exon skipping trial is currently underway and Dr Judith van Deutekom reported that initial results were very promising. It was reported that the trial should be finished in several weeks and they hope to make the results public within a few months of the end of the trial. Finally, Prof. Steve Wilton from Australia reported that they were making progress in developing molecular patches that might allow skipping of mutations in other exons of the dystrophin gene.

Dr Richard Finkel presented some initial data from the PTC124 clinical trial, currently underway in the US. He described results showing that PTC124 does appear to increase dystrophin expression in boys with Duchenne muscular dystrophy - this treatment will only work in the 15% of boys who have a particular type of mutation (nonsense mutation - see glossary) in the dystrophin gene. The treatment has been well tolerated by the participants and PTC Therapeutics hopes to now evaluate a higher dose of the drug in another group of boys. Dr Finkel reported that they hope to begin a longer-term trial late in 2007.

The news from the scientists was well received by the parents who welcomed the chance to put their questions to the experts and seemed pleased to hear that progress was being made in several different potential treatment areas.

The Sunday was spent listening to talks about key care management issues around Duchenne muscular dystrophy. The day was mostly attended by families and a few professionals.

One thing all speakers had in common was stressing the fact that the issues they where talking about were not just suggestions but rather a question of what you should do if your child has Duchenne muscular dystrophy. A main message was to the parents to take charge and make sure their child get the care they need.

Here is a summary of important actions for good management of Duchenne muscular dystrophy:

• Dr Michelle Eagle at University of Newcastle stressed that respiratory problems are entirely predictable; get the right assessment by the right people at the right time and then the proper treatment if it is needed – go to a specialist!

• Professor Kate Bushby at Newcastle Muscle Centre said that steroid treatment improves muscle strength, function and increase energy levels. Results are better if boys are treated before there is too much weakness. Discuss this with your consultant and make sure you are being seen according to the North Star protocol.

• John Bourke, Consultant & Senior Lecturer in Cardiology at Freeman Hospital in Newcastle upon Tyne spoke about the importance of monitoring the heart in boys with Duchenne muscular dystrophy. Particular attention is needed for left ventricular function. Get a referral for heart monitoring.

• Veronica Hinton from Colombia University in New York talked about learning and behaviour in Duchenne muscular dystrophy. Her main message was that not all boys will have problems but they should have a specific assessment. PPUK have published a booklet called PPUK Learning and behaviour toolkit for Duchenne muscular dystrophy. For a copy call PPUK on 020 8556 9955.

• Janet Hoskin, Specialist Teacher for Dyslexia in London said that Duchenne boys with learning problems may have similar learning problems as in dyslexia and she referred to PATOSS for more information. Website: www.patoss-dyslexia.org Another website with games, smart kits, tools and books for children with dyslexia is www.dyslexia-parent.com/

• Marion Main, Physiotherapist at Hammersmith Hospital spoke about the importance of making physiotherapy fun and to focus on maximising useful functions such as ankle movement, outside of thigh, knee and fingers, elbows and turning palms up. Focus on knee and hip only if needed. Talk to your physiotherapist.

• Volker Straub from Newcastle Muscle Centre pointed out that if pain is a problem, treating it properly is as important a care issue as ventilation, steroids and heart monitoring.

• Francesco Muntoni from Hammersmith Hospital made very clear that untreated scoliosis is associated with severe complications and therefore scoliosis surgery is good for you if you need it. There are risks involved with any surgery but it is important to know that the technique has improved and the surgery is done in a shorter time than before which has reduced the adverse effects of surgery. Scoliosis surgery should be done in expert centres with an experienced multidisciplinary team.

There were also two talks on possibly positive effect of nutrition and supplements.

Finally, it was very interesting to hear Jes Rahbek, Rehabiliterings Centre for Muskelvind talk about how it is to live with Duchenne muscular dystrophy was in Denmark. They have around 7 newly diagnosed boys every year and since 1993 ventilation and tracheotomy is a standard for treatment of Duchenne muscular dystrophy. Like in the UK, survival in Duchenne muscular dystrophy has improved dramatically due to this kind of treatment. Many young men live independently and most report a good quality of life.

You can also read the multidisciplinary management of Duchenne muscular dystrophy on our website.