The following Abstract from a research paper on gene therapy reseach for Duchenne is the result of a Duchenne Ireland Grant awarded to Professor George Dickson's Laboratory in 2009. Please see the translational research section of our website for the link to the full paper:

Delivery of AAV2/9-microdystrophin genes incorporating helix 1 of the coiled-coil motif in the C-terminal domain of dystrophin improves muscle pathology and restores the level of α1-syntrophin and α-dystrobrevin in skeletal muscles of mdx mice.

Koo T, Malerba A, Athanasopoulos T, Trollet C, Boldrin L, Ferry A, Popplewell LJ, Foster H, Foster K, Dickson G.

Royal Holloway, University of London, Biomedical and Life Sciences, Surrey, Egham, United Kingdom; T.Y.Koo@rhul.ac.uk.

PMID: 21453126 [PubMed - as supplied by publisher]

   

October 2nd 2010 - Ireland

Duchenne Ireland Charity Funds Cutting Edge Personalised Research

Duchenne Ireland issues a call for funding applications each year and there is considerable interest from research groups at home and abroad in obtaining financial assistance to perform much needed translational research into Duchenne Muscular Dystrophy. Decisions are made quickly by the charity’s research committee following peer review by international experts to ensure that important work can proceed without unnecessary delay. The charity, in it’s first grant call, contributed more than €200,000 to research projects that offer hope of promising breakthroughs in terms of treatments for this generation of boys.

Since it was set up a few short years ago, Duchenne Ireland has been involved in funding projects in Europe and elsewhere and it is hoped that such involvement can be continued. This will be possible only through additional fund-raising efforts which will help to ensure that money will be available to keep these important project going. The types and nature of the projects are very varied but in all cases the emphasis is on translational research that could have short or mid-term impact.

The latest round of funding has seen Duchenne Ireland commit another €180,000 towards a project that hopes to deliver results using a technique called exon skipping to overcome some of the negative effects of Duchenne Muscular Dystrophy. The project aims to identify the potential of exon skipping therapy for boys with Duchenne at a personalised level.

Numerous clinical trials are underway internationally for Duchenne therapies and Irish boys with Duchenne are currently missing out on the potential of these trials including upcoming “exon skipping” trials due to the lack of a clinical trial centre for Duchenne in Ireland. Ireland at present is one of the only countries in Europe that does not have a Duchenne Clinical Trial Centre. Duchenne Ireland is actively working with the Government and national Clinicians on a proposal to establish such a clinical trial centre for Duchenne in Ireland.

Funding for Duchenne Ireland research is generated from charity events such as this weekend’s (Saturday Oct 2nd) Tour Duchenne 2010, taking place at 9am at the Aquarium, Strand Road, Bray.
Tour Duchenne Is Duchenne Ireland’s annual charity cycle to raise funds for Duchenne Muscular Dystrophy research. Each year cyclists get ready for a super cycle route within Ireland. This year it takes them on the “Beach Tour” from Bray Seafront to Brittas Bay and back (approx 85 km.

The cycle is facilitated by the Gardai, the Red Cross, Bray Town Council and is sponsored by local businesses. This is a great day to show your support for the charity within the towns on the route (see http://www.duchenne.ie for route itinerary).

About Duchenne

Duchenne is the most common fatal genetic disorder diagnosed during early childhood, affecting approximately 1 out of every 3,500 boys and 20,000 babies born each year. Duchenne causes loss of muscle function and independence. There is currently no cure for Duchenne, but much research is currently underway to find an interim therapy that will help delay the progression of the disease until a cure is found.

66% of all duchenne cases are inherited from the boys mother. 33% of Duchenne cases diagnosed are not inherited but cause by environmental factors. This means that any boy can be diagnosed with Duchenne. Boys are usually only diagnosed between the ages of 3 and 5 years of age.Current research is working on replacing the missing dystrophin in children with Duchenne. Clinical trials are already underway, but we need more direct funding to this research to ensure it progresses faster than the disease.

About Duchenne Ireland

Duchenne Ireland is a patient organization and registered Irish Charity (CHY 18197) established to facilitate funding translational research into Duchenne Muscular Dystrophy. Duchenne Ireland is affiliated with numerous patient groups and clinical, research and support networks for Duchenne Muscular Dystrophy. Duchenne Ireland works internationally to rapidly advance research into Duchenne and welcomes organization, parents and supporter who believe they can help to forward progress in this research.

The aims of Duchenne Ireland is to raise awareness of Duchenne Muscular Dystrophy at local, national and government level. Our objective is to raise funds which shall go directly to the researchers and clinicians who we believe have the best chance of developing improved therapies which will benefit this generation. We are also working towards achieving an infrastructure which is on a par with best international practice.

Derbhile Dromey (Irish Medical Times) writes that some patient-led organisations, such as Duchenne Ireland, are stimulating research into medical conditions.

Patient-led organisations are playing a powerful role in stimulating research into rare diseases that would not otherwise attract funding. Organisations representing people with Duchenne muscular dystrophy (DMD), for example, which affects 160 families in Ireland, are stimulating significant research into the condition. Duchenne Ireland was set up by the parents of boys with DMD. Though only in its infancy, it negotiated a deal through UK organisation Action Duchenne to self-register with UK registries that select subjects for clinical trials. It also secured an agreement from the Tánaiste to facilitate a debate about DMD in the Dáil — a step towards permanent Government funding.

Duchenne Ireland gives an international focus to its research efforts. It has created a €200,000 grant, entirely through its own resources, which it has promoted through the research network Treat Neuro-Muscular Disease (Treat-NMD). “We wanted to move things forward,” said John Gorman of Duchenne Ireland (DI). “We don’t want an effort where it’s research for research’s sake. A lot of research in Ireland is university-led and may not be as translational as we’d like. We wanted to concentrate directly on research, because we knew that without that push, nothing was going to happen.”

International researchers

The grant call is being peer-reviewed and DI has set up a research committee of international researchers. “We’re looking at work where questions linked to clinical trials will be answered. The key was to make sure that it was as professional as possible. We’re not scientific people, but we want to be facilitators. Everyone agrees that there may not a cure or a therapy that will give function back to the boys, but things can be done on a step-by-step basis that can improve their quality of life. The research has to be applicable to this generation.”

Extract from Full Article kindly from Irish Medical Times