making muscle wasting history

Upcoming Events [0]

actionduchenne has no upcoming events.

About actionduchenne

Interests

im Nick the current CEO of Action Duchenne. I am a founding member of the Charity and Saul my son has Duchenne. I have four other lovely kids, Saskia, Toby, Emilia and Davy Ray and live with Janet who is also Sauls mum.
I still remember so clearly the day we sat in Francesco Muntoni's room and he told us our lovely little boy had Duchenne. The tough bit is no cure. At least 80% of childhood Leukaemia can now be cured but for Duchenne only steroids. Duchenne is an unrelenting disease. It is so hard seeing your boy slowly lose his strength. But for so many reasons he is a great kid and I can't imagine our family without him.
We set up Action Duchenne simply to get a cure for all the young boys and back in 2001 we were told that would not happen for his generation. We decided from the off that we had to make people aware of Duchenne as it seemed to be a lost disease. We had to try to get other parents to get their message out there to the world and I hope everyone uses this website to tell it as it is.
But we had to raise money and we had to get the government to support us. The funding for Duchenne research is still pitiful. In 2003 we helped to set up MDEX and we won an amazing grant for exon skipping. I still think that was a watershed that came at a time when suddenly research moved into clinical trials.
Now we see more trials and more potential drugs for Duchenne. The hope we talked about in 2001 is now a reality.
Of course scientific research is a lottery with many potential drugs never making it to a licenced treatment. But the momentum has now been created and we must make sure we keep up the fight for new drugs and ultimately a way to cure this disease.
Anyway my boy Saul is 8 and starting to do really well at school with a lot of help from Janet's Decipha programme. He's still on his feet and plays goalie at football with his brother Davy Ray and sister Emilia. They are a loud and lively bunch and I'm really not sure where they get it from!
Lets keep raising as much as we can. Lets insist that the Governemnt ring fence research funds for Duchenne. Lets make sure we get the best medical care for our boys. Most of all never forget to enjoy every minute of every day.

Its Time to Stop Wasting

I was a founding member of Action Duchenne then PPUK back in 2001. Perhaps our biggest achievement to date was to lead the setting up of the MDEX consortium that has led to the UK's first clinical trials for exon skipping.

But the lobbying has been fantastic and has opened many doors and raised so much needed awareness of Duchenne. The Charity has always had this dual strategy of raising money ourselves and fighting to win Government backing.

We now have a bigger job to convince the Government to link the development of new drugs with better access to standard of care for all.

I'm very worried by the hopeless lack of medical care for young men with Duchenne. It is a scandal that in Denmark so many more young men are living longer with better care, access to housing and independent living. These are political issues which we still have to win here in the UK.

But we set out to cure Duchenne and that remains our overriding aim

Achievements

2003 Dr Qi Lu Imperial College London Systemic delivery of Antisense oligoribonucleotide

2003 Professor Kate Bushby and Dr Michelle Eagle Use of steroids for non ambulatory boys with DMD Newcastle University

2003 Establishing the MDEX consortium with leading UK scientists and Clinicians in partnership with the Muscular Dystrophy Campaign and Duchenne Family Support Group

2004 Funding of £2m for the MDEX consortium from the Department of Health and the Medical Research Council

2005 Dr Jenny Morgan and Professor Francesco Muntoni Imperial College London Stem cell therapy using a lentivirus to modify the faulty gene

2005 Established the DMD Registry to collect gene variation information for clinical trials

2006 Professor Kay Davies University of Oxford Using AAV/U7 to develop exon skipping for Duchenne

2006 Professor Steve Wilton University of Western Australia Using explants to develop Exon skipping

2007 £175K ZF Partnership project with UK biotech company Summit to discover new drugs for Duchenne and to support their utrophin upregulation drug programme

2008 175K exon skipping programme Matthew Wood Oxford and Mike Gait in Cambridge

Annual International Duchenne Conference

Long Term Goals

We are planning to help to support new exon skipping trial initiatives here in the UK and help to accelerate other new drugs to the market for Duchenne. This will be a £5m programme for which we have so far fundraised £1m.

We will be developing new partnerships with Treat NMD to help to build the UK clinical trial infrastructure and support the development of the UK centres of excellence for Duchenne,

Previous Events [3]

• Westminster Lobby 2009 - 16 June 2009

  What a wonderful day! I met so many new families amongst the 150 who came to the lobby. You were...

• Lobby the Welsh Assembly - 10 June 2009

  It was great to meet old friends and new in Cardiff for the Lobby in Wales. The level of service...

• Lobby of the Scottish Parliament - 03 June 2009

  I attended the Lobby of the Scottish parliament today.60 families and young people attended the ...

Your Shout [3] - (View All Articles)

• Biomarin stops development of utrophin upregulation drug
  05:24PM, 03 August 2010 | 0 comments

  BioMarin Announces Results for Phase 1 Clinical Study of BMN 195 for Duchenne Muscular Dystrophy BMN 195 Program Discontinued due to Pharmaceutical and Pharmacokinetic Challenges.

• Government's new Health proposals
  09:00PM, 13 July 2010 | 0 comments

  Will the new funding through GP's help Duchenne patients?

• 55% skipping in one patient with AVI morpholino
  09:27PM, 03 June 2010 | 0 comments

  Great result from AVI/MDEX trial