making muscle wasting history

Research and Grants

£4m Research partnerships

Action Duchenne was established to find a cure or more effective medicines to treat Duchenne Muscular Dystrophy.

The Charity has directly funded or supported projects in partnerships for over £4m since 2003. Action Duchenne has worked with the MDEX consortium, Department of Health, Medical Research Council in the UK to deliver new clinical trials for Duchenne drugs.

Action Duchenne has worked in partnership with other Charities and Duchenne Trusts across the world including Charley's Fund, Gavriel Meir Trust, Duchenne Ireland, ICE and the Matthew and James Trust in Ireland to  fund new research.

The Charity has developed projects with Biotech companies here and in the US including key projects with AVI Biopharma and Summit.

We continue to work with leading academic groups including researchers at University of Oxford, University of Cambridge, University of Newcastle, University of Western Australia, Imperial College and UCL in London.

Achievements:

Since 2001 Action Duchenne (formally PPUK) has led the way in new Duchenne Research. Action Duchenne has funded the following major projects and led the development of the MDEX exon skipping project since it was established:

2003 £ 60K Dr Qi Lu and Professor Terry Partridge Imperial College London Systemic delivery of Antisense oligoribonucleotide.

2003 £15K 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 . Funding of £2.2m secured for the MDEX consortium from the Department of Health and the Medical Research Council

2005 100K Dr Jenny Morgan and Professor Francesco Muntoni Imperial College and UCL London - Stem cell therapy using a lentivirus to modify the faulty gene

2006 £150K Professor Kay Davies University of Oxford Using AAV/U7 to develop exon skipping for Duchenne in partnership with ICE (Monaco and France Duchenne Parent projects)

2006 £60K Professor Steve Wilton University of Western Australia - Using explants to develop Exon skipping

2007 £175K Established the ZF Partnership with leading drug discovery company Summit that has helped to support the further development of a utrophin upregulation drug by Biomarin in the USA. In partnership with Charley's Fund and Gavriel Meir Trust

2007 30K Profs. Volker Straub and Kate Bushby, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK - Effect of pharmacologically increased endothelial permeability on the uptake of antisense oligonucleotides in cardiac myocytes in mdx mice

2008 £155K Dr Matthew Wood University of Oxford PNA exon skipping project

2008 £20K Dr Mike Gait University of Cambridge, MRC Molecular Biology Laboratory - Development of peptide PNA conjugates for exon skipping

2008 £80K  Professor Steve Wilton University of  Western Australia - Antisense Oligonucleotide Design in partnership with the James and Matthew Foundation Ireland

2009 £166K Dr Matthew Wood and Dr Mike Gait - Advances in exon skipping for Duchenne muscular dystrophy: heart correction and multi-exon skipping in partnership with Duchenne Ireland

2009 £35K Appointment of Dr Karen Rafferty Treat NMD Duchenne Muscular Dystrophy Coordinator. To support the dissemination of internationally agreed Standards of Care for Duchenne to families and clinicians in the UK

2009 £800,000 AVI Biopharma - The project with the US biopharma has three progammes: Engaging with European and US regulatory authorities to develop exon skipping as a platform medicine, Research and development of other oligos to skip exons 53, 44, 45 and further Development of  European Clinical Trial sites

We welcome grant applications for high quality translational research.

Funding for new Exon Skipping medicines

Action Duchenne has been a key partner in the UK MDEX consortium that has been developing new antisense oligonucleotides that are able to produce new dystrophin proteins in muscle cells that we hope will eventually slow the very severe muscle wasting found in Duchenne.

In 2003 we worked with UK clinical and research groups to win £2.2m of Department of Health and Government funding for the MDEX consortium to conduct pre clinical studies and establish two groundbreaking UK clinical trials.

Since 2003 Action Duchenne has directly funded further research in exon skipping in the UK and Australia with £300,000 of further grants to teams at Imperial College London, Oxford University, Cambridge University and University of Western Australia.

$1.2m for Exon Skipping research with AVI Biopharma

In 2009 Action Duchenne established a key research programme with AVI Biopharma in the United States. The aim of the project was to

a) Fund work with Regulatory authorities such as EMEA, MHRA to enable Exon Skipping drug sequences to be seen as a platform medicine

b) To put in place three new clinical trial coordinator posts to establish further UK and EU clinical trial sites

c) Further pre clinical development of antisense oligonucleotide sequences to enable more young people living with Duchenne to be treated by exon skipping drugs.

Utrophin Upregulation

In 2008/9 Action Duchenne funded Summit plc for £175K to support further development of their utrophin upregulation programme. Summit have recently sold on their key compound SUMC1100 to Biomarin in the USA who are proposing to take this into clinical trial in 2010.

Stem Cells

Action Duchenne has also funded research at UCL to investigate ways to develop stem cells to treat Duchenne.

DMD Registry

Action Duchenne has established and continues to fund a Registry of Duchenne patients that collects vital gene variation information to help recruitment for genetic clinical trials.

More Clinical Trials

Clinical Trials are also progressing with Ataluren developed by PTC Therapeutics and Genzyme. PTC have also developed the Catalyst programme to develop other Duchenne therapies.

Prosensa and Glaxo Smith Klyne have also started clinical trails for exon skipping for exon 51 and now exon 44.

Race Against Time Campaign

There is great promise in this progress for new medicines for Duchenne and great hope for the future.

We must remember, however, that to date none of these drugs are available on the market. Much more needs to be done in terms of further trials and research. There still is no cure for Duchenne. Funding for research for an orphan disease like Duchenne is still at very low levels and leaves our research teams scrabbling for small grants.

Duchenne needs ring fenced funding from the UK government to properly support high quality research and clinical trials to bring about a cure for this generation of young people.

Action Duchenne has set up the Race Against Time Campaign to advocate for ring fenced funding.