Blog: Nicks Blog

Centres of Excellence - Action Duchenne meets Minister

Wed, 17 Sep 2008 16:39:36 GMT

I was part of an Action Duchenne delegation that met with Scottish Health Minister Shona Robison on Tuesday 16th September in Edinburgh.

Despite invitations to attend The Muscular Dystrophy Campaign and representatives from the Scottish Muscle network decided not to come with Action Duchenne to meet the Minister. The reason that they did not attend was made clear by Shona Robison as she produced their collective agreed plan for implementing medical care for neuromuscular diseases through a virtual network in Scotland that we have opposed. I have copied the schematic diagram tha Shona gave us here to show you what we were asked to comment on.
Stephen Lynn from Treat NMD explained that they would be publishing internationally agreed Standards of Care (SOC) in the near future and asked for endorsement by the minister for our DMD Registry. He gave the minister a copy of the Treat NMD open letter. (download from our library)

I pointed out to Shona that the key pre requisite for implementing these SOC's will be a multi disciplinary team of clinicians and health professionals with Duchenne expertise. This is why Newcastle and Great Ormond Street (previously Hammersmith) work so well. When my son Saul was diagnosed the first thing that I wanted was expert help and medical support. Janet and I went to the Hammersmith straight away. There is no provision in the MDC/Scottish muscle network model here for building a multi disciplinary team at the hub of the service. Why should families in Scotland be denied access to a Centre of Excellence within their own Health Service?

I explained that this model was more of the same that had failed Scotland for 10 years and had left young people with Duchenne dying earlier in Scotland than in Newcastle over the border. How poor Carol Longman was going to be rushing around Scotland from clinic to clinic providing clinical support for Duchenne and other patients with neuromuscular diseases was also beyond me. I hope Carol has a helicopter!

But seriously this model is a recipe for failure. Just as a similar model in Wales has also failed and has now closed. We do not need virtual services we need expert clinicians, cardiologists, respiratory consultants, physios, OT’s, speech therapists, clinical psychologists, orthotists, wheelchair provision and so on in a centralised team that builds up expert knowledge of Duchenne and offers the highest quality medical care. Duchenne families in Scotland must be able to visit this centre of excellence at least once every 6 months. The centre should be run by a leading neuromuscular expert and be linked with academic research groups in Scotland (Edinburgh and Glasgow.) We know that this is what Scottish families want as many of them are going over the border to Newcastle.

OK so Shona asked us how we link a hub like this to local services across Scotland. A good point and we know that visiting Great Ormond Street or Newcastle is one thing but when you get home to Rotherham or Waltham Forest where I live there are no speech therapists and its pot luck with Physios and OT’s. How effective are Centres of Excellence when your son goes into Whipps Cross Hospital A&E in respiratory failure?

There is not a simple solution to local service provision. Duchenne is a rare and very complex disease and there will not be specially trained Duchenne experts in your local NHS service. So we must start by all families having access to a Centre of Excellence within 50 miles of their home. The Centre of Excellence must have the quality and numbers of staff to provide clinics and outreach resources. In their recent survey (State of the Nation) the Muscular Dystrophy Campaign show how medical care services are a postcode lottery and we agree as that is the experience regularly reported by our Duchenne families. But the answer is not to start with 50 care support officers funded by the NHS across the country. They will simply find out what we already know that we can’t get easy access to local support.

We should start with advocating for 6 new Centres of excellence along the Newcastle/GOSH models and beefing up these teams to include not only clinic day staff but drop in centre teams and outreach provision. These extra properly trained physios, speech therapists, teachers, OT’s, medical nurses can advise schools, GP’s local health care providers and also help to fill in gaps of local provision. This is what Michelle Eagle and Louise Hastings, for example, do so effectively from Newcastle across the North of England. (I’m sure they could do with a much larger team).

I am not against the idea of more help on a local basis but it must come from the multi disciplinary teams in the hubs of a Centre of Excellence.
Centres of Excellence also provide us with expert guidance that we can use to ensure we get access to whatever local provision exists. I have used letters from Great Ormond Street to help with Saul’s statement and to get him a full time teacher’s assistant. The letter forced the local authority to comply otherwise they knew they would lose a tribunal.

If you look again at the virtual model then why not make Edinburgh the natural hub and build a Centre of Excellence attached to research groups at Edinburgh University? This would also give Scotland a Centre to run clinical trials for Duchenne gene therapies and drugs. This would give a large proportion of the Scottish population in the central areas immediate access to within 50 miles of their home. Such a centre could then begin to provide outreach support to Aberdeen, Dundee, Inverness where there seems to be some very basic provision already in place.

I think Shona listened and will consider our arguments.

She also told us that they agreed £16m of new investment in wheelchair services. We hope that some of that gets to Duchenne families for the stand up power chairs our young people so desperately need.

They are also reviewing the Housing grant to families and are proposing a new package of £30K or up to 100% of cost. We have lobbied for these two years ago and would welcome this real improvement.

Shona also spoke about the need to improve24/7 carer support for older men living with Duchenne.

It’s very disappointing that the MDC and the Scottish muscle network continue to go their own way over lobbying for improved provision in Scotland (and Wales and England) and are promoting a model that simply will not work.

Action Duchenne is very clear that loose virtual networks are not the way forward and indeed will continue to lead to poor local services and our sons dying younger than in areas with expert multi disciplinary teams. We will work to continue to lobby for the best medical care and support for our young people and as always we welcome the opportunity to join with all organisations who are willing to do the same.

Action Duchenne meets with Health Minister Ann Keen

Mon, 14 Jul 2008 19:15:34 GMT

Carl Tilson lets Ann Keen Minister of Health know all about Duchenne

"Allow me to introduce myself, my name is Carl Tilson, I’m a 21 year old young man living with Duchenne Muscular Dystrophy and I’ve came here today to talk about the effect that this horrendous disease has on individuals and there families.

I’ve had dreams of becoming a professional footballer like my granddad Fred Tilson who played for England & Manchester City Football Club in the 1930’s. His main achievement was scoring two goals in the 1934 cup final beating Portsmouth 2 – 1, I would have loved to carry on my granddads legacy playing football but unfortunately that will never happen.

I’m already on borrowed time living past expectation being 21 years old, I’ve been living with Duchenne for 20 years now; I have had to have a rod put into my back at 16 because my back was beginning to curve so spinal surgery was needed – there was a risk that death could occur with this operation. I have to use a ventilator at night, I need 24/7 care! I can’t even enjoy food anymore which is very difficult to face because food is one of life’s pleasures and I really enjoy food, I’m fed by a tube through my stomach because of my muscles in my throat have also deteriorated! Which being fed by tube isn’t what you would call very comfortable! I also have problems with holding my urine because of weakness in my bladder which is embarrassing and spoils my social life.

Another problem I have is I can easily lose control of balance and it makes me feel crippled and useless, I can’t even put my arms up to my face. Problems with not being able to enjoy a meal & bladder weakness, does that sound like fun?
It’s hard to enjoy life like this…

I’m afraid to die from this death sentence on my head; it’s like being innocent but on death-row, the face of death staring into my eyes every single day – being the age that I’m at I wonder each day will this be the day that I die. I should be out enjoying my life, going to college, contributing to society, thinking about my future career not sitting around deteriorating, dying, thinking bout when I’m 6 foot under!

Living with DMD … everyday it same old heartache, get up in morning have a feed, I used get up decide what sandwich I wanted with a packet of crisps. Watch TV having a curry for tea. I miss food the most – sometimes being like this I wish I was dead. I don’t care about rules & regulations, especially when it’s a matter of life or death, I need a treatment as soon as possible or I’ll die. Simple as that!"

Carl was part of a delegation that met with the minister following the debate between Duchennne champion MP's Nigel Evans and Dave Anderson with Health minister Dawn Primarolo.

Parent Doron Rosenfeld from the Gavriel Meir trust presented their excellent video including footage of Mark Styler talking about living with Duchenne. Parent Bernard Mooney spoke about his son Ben and showed recent film of his son. Carl was supported by his parents and Action Duchenne advocate Esther Derber.

Ann Keen was visibly moved by Carl and the other presentations. She told Carl that she had already spoken with Lord Darcy about him and that they wanted to invite him to take part in Lord Darcy's NHS review.

I argued through our key demands for ring fenced funding for research and for more centres of excellence in the UK. Again the important argument to make is that research and medical care are not separated by a brick wall. They should always be looked at from the point of view that the best medical care for a complex condition like Duchenne needs to be advised by the best research and science. Funding science means getting the best possible medical care for our sons.

Our scientific research projects are impressive and the head of the DoH research funding team Peter Sneddon recognised that we were exactly in agreement with their policy of funding translational research. Unfortunately he was stuck in the old broken record of not agreeing to ring fenced funding but did concede that the DoH would look very favourably if our scientists put in bids to the MRC or DoH. Ann Keen asked for a review of the research and clearer guidance on what the DoH and MRC would fund.

Ann Keen was very interested on how we might be able to develop hubs of specialist provision across the UK. She was very concerned that both Bernie Mooney's family and Carl's had to travel to Newcastle from Manchester to get even basic physio support. Ann Keen has promised us a review of the centres of excellence proposal in our document "Duchenne research into the clinic".

The minister also promised to chair a further meeting to resolve the issues that we have raised. I argued with her that we should have a round table meeting to put together a directive from the DoH to spell out a new policy that will show to Duchenne families how the new Treat NMD Duchenne standards of medical care will be implemented in their areas. I will be arguing that this should mean expanding on the centres of excellence based on the models and Great Ormond Street and Newcastle and that we have proper provision for both young and older young people living with Duchenne.

Today was another step forward following our letter writing and lobbying. But as Dave Anderson MP told the minister none of us want to be back here in a years time having lost Carl Tilson to this terrible condition. The time to act is now and both our champion MP's Nigel Evans and Dave Anderson have promised to keep up the pressure on the minister and DoH for further action.

Ring Fence Duchenne

Thu, 03 Jul 2008 13:47:19 GMT

Nigel pulled no punches in describing the effects that Duchenne has on young people and the impact that it has on families. Nigel quoted our document “Bringing Duchenne research to the clinic” and called for a commitment to further ring fenced funding for research. He also asked if the current centres of excellence for Duchenne in London and Newcastle could be expanded to cover the whole country.

Like many people Nigel was not personally aware of the severity of Duchenne that will lead to severe muscle wasting, paralysis and early death. His speech in the main chamber of the house is a vital step in the process of making all our MP’s and Government officials aware of Duchenne. Nigel quoted to the minister the statement made by the Prime Minister’s office in October 2007

“The Government fully accepts that everything possible needs to be done to bring and end to the tragic impact Duchenne Muscular Dystrophy has on individuals and their families”

This statement has been a major recognition from the government that much more needs to be done. Through the work of Action Duchenne the government had provided £2.2 m of funding for the gene therapy MDEX project. So it has been a great disappointment that parents had received a letter from Dawn Primarolo Minister for Health stating:

“The 2.2 million granted to the project represents a significant and appropriate investment in view of the fact that the research is still at an early stage and there are competing demands for resources. We are therefore not in a position to commit further funding at this time”

But Dawn Primarolo states in her debate with Nigel Evans that the Government is boosting funding of research through the Department of Health’s funding review of 2007. This will give substantial extra sums for the MRC and NIHR.
“By 2010–11, total Government investment in health research will top £1.7bn. So the funding is there.”

Despite our demand for £30m being only 0.02% of this total budget for one year the government will not ring fence funding, according to Dawn Primarolo, for specific diseases like Duchenne. So it is left for our researchers to join the lottery of applications for various rounds of funding. This is no way to support research and clinical trials. Indeed the MRC itself has recognised this in describing on its website its recent partnership with The Motor Neuron Disease Association.
http://www.mrc.ac.uk/NewsViewsAndEvents/InvolvingThePublic/PublicInvolvementInMedicalResearch/MND/index.htm

“The workshop (organised with their patient group in December 2007) was the beginning of a new initiative aimed at accelerating the pace at which research findings are turned into prevention and therapies for MND. The MND Association and the MRC have pledged an additional £15 million for high-quality research aimed at finding new treatments and cures for this debilitating neurodegenerative condition, Currently, the MRC invests around £3.7 million a year on research related to motor neurone disease. It’s looking to fund at least £7.5 million of new research over the next five years. At least the same amount will be spent on research by the MND Association’s private donors.”

Unless I’m very much mistaken this represents ring fenced funding for a particular disease by the MRC as recently as 2007. This is an example of exactly the type of partnership that we would like to build with the government so why not with Duchenne Dawn?

Dawn Primarolo takes up our argument for centres of excellence.
“Although more than 60,000 people in the UK have a muscular disease or a related condition, that is not a large number compared to the total number who need access to specialist services. It is difficult to see at this time how the level of specialist services that is needed could be provided in every locality.”

So Dawn, 60,000 people some of whom are paralysed by 16 years of age and fighting for every breath at 20, suffering serious heart problems and need constant care and attention do not warrant special services? No wonder this government is struggling for survival and working class voters are currently deserting them in droves if they cannot help some of the neediest and disabled people in our communities.

The solution to providing these specialised services is simple and the government already have blueprints at Great Ormond Street in London and in Newcastle. We need to extend these hubs of multi disciplinary provision to say Belfast, Cardiff, Glasgow, Manchester, Oxford and then the spokes of the wheel of provision can be put in place with additional outreach resources.

The answer is not a few more physiotherapists (however welcome) scattered around the country or the odd occupational therapist here or there. The very nature of Duchenne demands highly trained experts steeped in cutting edge research that can provide the expert medical care required. The success of multi disciplinary teams likes those at GOSH and Newcastle depends upon building expertise over time and being led by a senior professor or clinician. We believe at Action Duchenne that this could be achieved very quickly and these centres can also provide the support for new clinical trials.

Dave Anderson another of our champion MP’s speaking at the debate summed up very movingly our Race Against Time:

“I want to close by returning to the report that the hon. Gentleman mentioned. (Duchenne research into the Clinic Action Duchenne June 2008) It says the system has failed; however, it is not the system but Members in this House who have failed. If we go back to a lobby next June to meet the boys we met a fortnight ago and more of them are no longer there because they have died, we will have failed them again. We must put this right.”

Action Duchenne will continue to fight for ring fenced funding that has been won by organisations like the Motor Neuron Disease Association and to gain new centres of excellence to treat all young people with Duchenne.

Action Duchenne calls for an immediate and thorough review of the use of steroids in treating Duchenne

Sat, 24 May 2008 20:24:50 GMT

Action Duchenne has received information from the coroners report concerning the sudden death of a little boy in Wales with Duchenne.I am copying here an updated statement from Action Duchenne based upon recent nformation from the family. Following the coroners judgement we believe that a full and thorough review of the use of steroids for treating Duchenne must be undertaken in the UK. We would expect new guidelines to be published for families. The statement follows:

"It is with great sadness that we have to report that a 7 year old boy in Wales with duchenne muscular dystrophy undergoing steroid treatment died suddenly on 27 April 2008. The thoughts of everyone at Action Duchenne goes to his family at this time.

The cause of death has been confirmed by the coroner as a “perforated gastric ulcer in a subject with Duchenne Muscular Dystrophy treated with steroids.” The coroner’s report goes on to say he “was prescribed steroids as part of his treatment; steroids are a recognised cause of gastric ulceration and this would appear to be the most likely reason for the gastric perforation. Histology of the stomach may provide further information."

The family have asked Action Duchenne to bring to parents’ attention the circumstances surrounding his death.

He started his course of steroids at the age of 5 and experienced stomach pains straight away. He was prescribed Ranitidine which was later changed to Omeprazole to help to lessen the stomach pain. The pain decreased but did not totally go away. During his steroid cycle this could be for several times a week for up to half an hour but it was not severe to the extent that he needed pain relief. The family continued to report the pains to his specialist team. His community paediatrician referred him to a gastro enterologist in December 2007 but no action was considered necessary.

He had been completely well until the Friday 25th April 2008 evening when he developed a viral stomach bug, that a number of his classmates had experienced that week. He saw a GP on Saturday who confirmed it was a viral stomach bug and no action was necessary. In the early hours of Sunday morning the pain became more severe and a second GP was called who maintained that it was a simple stomach bug possibly being exacerbated by slight dehydration. He died on the way to hospital 10 minutes after seeing the GP and only 36 hours after first experiencing sickness.

In the light of this tragic incident Action Duchenne is calling for an urgent and immediate review of long term steroid use in treating Duchenne with special reference to this case and the risk of gastric ulcers.

In particular we would expect advice on

•         Are steroids a gold standard that we can continue to safely use
•         In the light of the this case do the benefits of steroids still outweigh their side effects
•         What are the early signs of ulcers in a child with Duchenne
•         What is the difference between the symptoms for a general tummy ache, constipation, bad wind and the beginnings of an ulcer
•         Procedures for our clinical visits that we believe must require a thorough abdominal examination
•         Early signs of distress that require hospitalisation and examination by a gastro enterologist

Until we get this advice we urge parents to consult with their clinical teams before making any decisions about removing their children from long term steroid use. Removal from steroids requires clinical support as it must be a gradual lowering of the dose over time.

It is important to know that steroids can increase the risk of stomach upsets and ulcers. Steroids can also mask symptoms of viral or other illness and so the usual associated high body temperatures for example might not be recorded. In other words a child might be very seriously ill but not showing the normal symptoms.

This would appear to be a rare incident. But as many young people with Duchenne are regularly taking steroids Action Duchenne feels that parents should be reminded of procedures when dealing with a young person with Duchenne who might be taken ill very suddenly.

It is important that families err on the side of caution and act quickly if your child with Duchenne is taken ill.

We strongly advise you to:
• Contact your GP immediately if you are at all concerned about stomach pains or other signs of distress
• Get your child to hospital immediately if the symptoms appear to be persistent, worsening or are severe
• At all times contact your specialist Duchenne clinical team and ask for advice and keep them informed
We send our small words of comfort to the family who have sadly lost such a beautiful little boy."

Steroids and Ulcers

Wed, 21 May 2008 18:59:31 GMT

It is with great sadness that we have to report that a 7 year old boy in Wales with duchenne muscular dystrophy undergoing steroid treatment died suddenly on 27 April 2008. The thoughts of everyone at Action Duchenne goes to his family at this time. The family have asked Action Duchenne to bring to parents’ attention the circumstances surrounding his death.

He had been completely well until the Friday evening when he developed a viral stomach bug, that a number of his classmates had experienced that week. He saw a GP on Saturday who confirmed it was a viral stomach bug and no action was necessary. In the early hours of Sunday morning the pain became more severe and he died on the way to hospital, 36 hours after first experiencing sickness. The cause of death has been confirmed as a perforated stomach ulcer. The family are awaiting the results of the post mortem. The Coroner is currently considering whether the steroid treatment, Duchenne or other factors contributed to the outcome. This report will then be passed to Francesco Muntoni's team at Great Ormond Street Hospital.

This would appear to be a very rare incident. But as many young people with Duchenne are regularly taking steroids Action Duchenne feels that parents should be reminded of procedures when dealing with a young person with Duchenne who might be taken ill very suddenly.

We know that steroids such as prednisolone have a real benefit for young people with Duchenne. But we also know that they have side effects. These are well documented http://www.treat-nmd.eu/soc/eng/dmd/ .

It is important to know that steroids can increase the risk of stomach upsets and ulcers. Steroids can also mask symptoms of viral or other illness and so the usual associated high body temperatures for example might not be recorded. In other words a child might be very seriously ill but not showing the normal symptoms.

It is important that families err on the side of caution and act quickly if your child with Duchenne is taken ill.

We strongly advise you to:

• Contact your GP immediately if you are concerned about stomach pains or other signs of distress
• Get your child to hospital immediately if the symptoms appear to be worsening or are severe
• At all times contact your specialist Duchenne clinical team and ask for advice and keep them informed

We send our small words of comfort to the family who have sadly lost such a beautiful little boy.

Dying in Silence

Sun, 13 Apr 2008 20:03:37 GMT

These are fine words from Gordon Browns Office but the truth is that over the last 10 years funding for Duchenne research and clinical trials has been pathetic. It was not until we won the £1.2m for the MDEX trial from the DOH that the Medical Research Council (MRC) funded a clinical trial for Duchenne in 2003 for £650,000. The MRC has spent an appalling 0.3% of its budget on ALL Muscular Dystrophy research in those 10 years. 99.7% of its funding has been spent on other diseases

We still face the reality that few people or government officials have ever heard of Duchenne. Young people still die every week in silence. Only us Mums and Dads and Grandmas and Granddads and family friends understand and feel the pain of this terrible loss of life. I was privileged to be asked to speak at Mark Stylers funeral recently in Coventry and I was painfully made aware of the wonderful support that he had from his friends and family. But the tragedy for Mark was that exon skipping trials ( He needed to skip exon 51 ) and new medicines came too late for him. For Mark and all those other wonderful young people Action Duchenne vows to keep fighting.

Its no use us sitting on sofa wishing for a cure, we have to get our message out to the public and government. Action Duchenne needs money for research and to keep our campaigns going. Please sign a Direct Debit for us today. We need the biggest turn out ever at our Lobby Day on 18th June and we all need to bring our sons and daughters with us. Register today at www.actionduchenne.org/lobbydoc08 and hold this government to account.

Dutch Exon skipping trial - New Year cheer

Tue, 15 Jan 2008 23:50:17 GMT

Here is their summary:

Methods
Four patients, who were selected on the basis of their mutational status, muscle condition, and positive exon-skipping response to PRO051 in vitro, received a dose of 0.8 mg of PRO051 injected into the tibialis anterior muscle. A biopsy was performed 28 days later. Safety measures, composition of mRNA, and dystrophin expression were assessed.
Results
PRO051 injection was not associated with clinically apparent adverse events. Each patient showed specific skipping of exon 51 and sarcolemmal dystrophin in 64 to 97% of myofibers. The amount of dystrophin in total protein extracts ranged from 3 to 12% of that found in the control specimen and from 17 to 35% of that of the control specimen in the quantitative ratio of dystrophin to laminin α2.
Conclusions
Intramuscular injection of antisense oligonucleotide PRO051 induced dystrophin
synthesis in four patients with Duchenne’s muscular dystrophy who had suitable
mutations, suggesting that further studies might be feasible.

Looks kinda not very interesting and maybe they have been told not to get too excited.

But I think this is a wonderful milestone. We have at last seen that these Oligos look safe and they work. OK only in the region of 3-35% but that is with a small one off dose. To tell the truth this looks a lot better than I would have expected.

Well further studies are certainly feasible and are right now being planned for bodywide delivery or systemic delivery of these Oligos. Also just before Xmas the MDEX group in the UK announced that they had started trials using Morholinos.

You can also see in our document library a review of this work by Eric Hoffman from the USA. He points out a couple of important things. Firstly we have to see if systemic trials work. Most importantly how can we roll this out if successful for all patients? It would seem that the FDA drug authority in the USA are taking the line that each Oligo must be seen as a separate compound. If so this would make Exon skipping hopelessly expensive and would never be a gene therapy for Duchenne. He rightly argues for Oligos for Duchenne to be seen as a class of compounds so that by testing maybe two Oligos then all related compounds could be rolled out for Duchenne patients without expensive and log winded clinical trials.

We are lobbying the MHRA here in the UK to argue for such a plan. That's why everyone's lobbying is so important to crank up awareness of Duchenne.

Robin Sharp has been busy over the holiday getting the DMD Registry revised to take online registrations. Also if you have already registered then you need to logon again and update your data as it now collects more information for researchers than before. Contact our Angela angela@actionduchenne.org for info.

The Registry is a key tool for helping to fast track trials. So make sure you are on it and you also might get asked to join trials.

So is 2008 going to be the year when we see major developments for Duchenne? I reckon we will know if Exon skipping is really going to work within the next 18 months. If its going to be rolled out and on the market sooner rather than in 15 years will depend on our campaigning for funding and getting Duchenne treated as a special case. The MDEX funding stops by the end of this year.

Everyone can play a part by writing to their MP or raising funds.

Lastly congratulations to Professor Kay Davies who thoroughly deserves her New Years honor. She has been made a Dame for all her wonderful early work on identifying the dystrophin gene structure and also her work on Utrophin up-regulation. Now that's another drug from Summit that could be on the market sooner rather than later. But well done Kay and we hope to see you at our conference again this year.

Happy new year to everyone.

Nick

National Stem Cell Network

Tue, 04 Dec 2007 21:46:29 GMT

They very much wanted to know what patient organisations like ours wanted to see in terms of stem cell research development in the UK.

There has been lots of hype about stem cells but very little has so far been delivered to patients. I outlined the progress being made in muscle in particular with Guilio Cossu's team in Italy. You might remember the excitement of the dog trials using mesangioblasts. Also see Jenny Morgans excellent stem cell report at the conference 2007

My take on all this is that we need to see promising stem cell research move more quickly to clinical trials. It seems to me that stem cell work like other research in Duchenne can get stuck for years in the MDX mouse model. Obviously this basic research is very important and needs to be done especially from a safety point of view but I am glad to hear that Cossu's team are moving to human clinical trial rather than getting bogged down for years in more and more dog work.

What you all might not know is that Action Duchenne is funding a parallel project here in the UK with Jenny Morgan and Francesco Muntoni at the Hammersmith. The first year of funding has so far seen a new appointment, Jinhong Meng, to Jenny Morgans team and she is working on synovial stem cells to see if they can be differentiated into muscle cells.

Carl Adkin is also working in the Imperial team in London and he has been collaborating with Cossu in Italy and the European MYOAMP project on muscle stem cells. Carl is comparing the ability of human muscle precursor cells and pericytes to differentiate to skeletal muscle in tissue culture after grafting into mice.

This team will soon be moving to the new MRC Centre at UCL/Great Ormond Street as part of the translational research centre of excellence. This centre that will open in the new year will be geared up to run clinical trials. Jenny's team will also benefit by being able to work with with one of the UK's biggest stem cell groups at UCL.

The National Stem Cell Network are going to be lobbying the Government for further funds for translational research that leads to clinical human trials for all diseases. We will be working with them to back this lobby as I think you will agree we need the wonderful prospect of stem cell treatments rapidly turned into real treatments for Duchenne.

Knocking on Gordon's Door

Wed, 31 Oct 2007 21:23:45 GMT

It was Action Duchenne families that lobbied so hard to get the Department of Health to fund £2m of new Duchenne research. This has gone to the MDEX consortium and they have now started their first phase clinical trial. But come on Gordon Brown - £2m is small potatoes. This government has spent a staggering £12bn on a new NHS computer system that does not work. The total NHS budget is some £65bn a year. So £2m is not much more than the DoH might spend on paper clips.

The truth here is that this money will run out in 2008 and the clinical trial will come to a halt without more funding. We will know by then if morpholinos work but we won't have the funds to roll this out for all exons or see what doses will be required.

The DoH have not yet responded to our demands to fund further research.

We also lobbied hard for the new translational research unit at Great Ormond Street/Queens square/ Newcastle and we are proud to see this starting up by the end of this year. Francesco Muntoni's team are moving to GOSH.

But what about Scotland or Northern Ireland or Wales. Will they get services and research budgets to match GOSH/Queens Square? And Gordon is £3m really enough to deal with this terrible muscle wasting disease?

Cystic Fibrosis that has about 7,500 sufferers in the UK has 10 times the research projects that there are for Duchenne. Everyone knows about Cystic Fibrosis. Until we lobbied the DoH they had never heard of Duchenne.

So we have a lot to do.

We must try to raise £2m ourselves and ask the government to match our fundraising 10 times over. Ours is a Race Against Time and everyone can play a part.

Get writing to your MP and join our lobbies. Lets keep knocking on Gordons door.