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About S.A.M.

SAMThank you for visiting our website and taking the time to learn more about Sam, his condition and the charity that we set up to raise funds to help find a cure for muscular dystrophy.

Sam is a gorgeous little boy with blonde hair, big blue eyes, and a mischievous sense of humour. Everyone who meets him falls in love with him. In so many ways he is like any other little boy, except for the fact that his muscles do not work properly. This is because Sam has a progressive muscle wasting disease called Congenital Muscular Dystrophy.

Sam was diagnosed with this condition at just 13 months when he showed signs of delayed milestones. The doctors tested his blood, and then we had an agonizing wait for him to have a muscle biopsy, which confirmed everyone’s worst fears. We were told that Sam’s muscle sample showed a problem with the production of a protein, needed to keep muscles healthy. I could not even begin to take in the information at that stage.

Muscular Dystrophy is a group of over 40 neuro-muscular diseases affecting thousands of children and adults in the UK, Ireland and across the world. The disease comes in many forms and causes the muscles of the body to gradually degenerate and waste. Children often become dependent on wheelchairs at a very early age and as the muscles continue to deteriorate they might become quadriplegic, suffer from scoliosis (twisting and distortion of the spine) and develop painful muscle contractures. Many eventually lose the ability to breathe and eat without assistance.

When Sam was diagnosed with Congenital Muscular Dystrophy I asked the doctors to tell me something – anything - to give me hope… but right now there is no cure. There is not even a treatment to slow down the progression of this horrible disease. There is no government funding – no big research lab – no multi-national pharmaceutical company just waiting for the nod. As a rare disease, the form of muscular dystrophy from which Sam suffers has, until now, been largely ignored in research and drug development. I knew then what a battle we would have to fight even to raise people’s awareness of CMD, let alone move us along the path towards finding a cure.

All of us were shocked to the core when we learned of Sam’s prognosis. In April 2008 a small group of friends and family set up the charity “Struggle Against Muscular Dystrophy” to help raise awareness of the condition and generate funding for research. To date, with huge support from the people of NI and a number of extremely successful fundraising events under our belts, we have raised almost £400,000!

One of our core commitments from the get-go was that we would establish and run as a ‘zero cost’ charity – in other words everyone involved with the charity would give freely of their time, expertise, products and services so that we could be in a position to promise faithfully that every penny we raise can go to research to help bring an effective treatment and eventually a cure one step closer not just for Sam, but for the thousands of other children whose lives have been devastated by this disease.

Every penny raised so far has been directed to international research projects through a tendering process, which we set up with clinical advisors who have painstakingly evaluated the merits and prospects of each grant application. This research has already moved us - slowly but surely - towards a potential drug candidate as a treatment for CMD. There is great cause for optimism that within the next 5 years we will at least have an effective treatment to slow the rate at which the muscles are wasting. This will potentially buy us a little more time for the scientists to find a cure – and that dream ignites and sustains the passion I have for raising the vital funds that will help maintain the research. I dream that Sam and all the other children who suffer from CMD will have a real chance of having a brighter future than the one currently predicted for them.

This will only happen with your help…

Thank you – on behalf of SAM and the many thousands of families in the clutches of this cruel disease.

You give us hope.

Tracy
Tracy (Sam’s Mum)

 

What Have We Achieved So Far?

SchoolThanks to the generosity of the people of Northern Ireland, SAM has already raised almost £400,000. Every penny of this money is being put to work.

In 2009 and 2010 your donations funded: -

 The entire set-up and year one running costs for the CMD International Patient Registry. This registry, which was launched to CMD patients, consultants and clinicians in August 2009, aims to capture vital information on disease subtypes and genetic mutations, and will eventually provide researchers and scientists with information on disease progression and subjects for clinical trials. This is a vital first step towards our goal of finding effective treatments for the CMDs.

Four Translational Research Grants. To date four important research projects have received funding from SAM, totalling over £175,000 to evaluate 3 promising CMD drug candidates: an NFKappaB inhibitor, Laminin-111, and a muscle specific IgF upregulator. A separate effort to identify disease bio-markers specific to Merosin Deficient CMD (MDC1A) also received funding from SAM. (Each application received during the grant process was subjected to a rigorous review process that included outside peer review and Scientific and Medical Advisory Board evaluation).

2011:  
One of these research projects turned out to be a ground-breaking study with the potential to lead researchers to an effective treatment for Merosin Deficient CMD (MDC1A). Researchers led by Dean Burkin at the University of Nevada, Reno identified that Laminin-111 (LAM-111) can serve as an effective protein substitution therapy for the treatment of MDC1A (Rooney Burkin et al).  

 In 2011 SAM provided two grants totalling $200,000 to Prothelia, a small US based pharmaceutical company. Prothelia has committed resources to taking the development of Laminin-111 to the next stage of development - the manufacture of Human Laminin (h-LAM-111) as a protein therapy for MDC1A.

 To date this funding has helped to investigate the manufacture of human LAM-111 utilising various different methods. Prothelia is currently in the process of choosing the most optimal method.   Additionally, this funding has helped allow Prothelia to develop tests to better quantify and qualify human LAM-111 (no tests existed before). Prothelia has secured Patent Protection critical to future investment in most developed nations (US, EU, etc.)  

Prothelia is currently in discussions with large biopharmaceutical companies to out-licence the development of hLAm-111 and is near a definitive contract, which will take the work they have done and apply millions of dollars of effort in the further development and commercialisation of LAM-11.

2012-2013:  

MolecularIn 2012-2013, in addition to continuing to provide funding to Prothelia with a further donation of $100,000, SAM has also undertaken to provide funding for a four year post-graduate research position at UNR, under the supervision of Professor Burkin in order to further this vital work and to encourage the new generation of researchers into the field of CMD research.

The recipient of this grant, Caroline Coffey (from Bangor N. Ireland), graduated top of her year in Biomedical Science with a First Class Honours Degree from The Queen's University of Belfast. As part of her undergraduate studies under the International Undergraduate Research Program (IURP) Caroline had the opportunity to spend a year working in Professor Burkin’s laboratory at UNR.

Caroline revealed: "This placement year sparked my interest in Muscular Dystrophy research and I have chosen to dedicate my scientific career to the further investigation and understanding of these devastating neuromuscular diseases, especially Congenital Muscular Dystrophy which so cruelly affects the lives of many young children and their families. I want to make a significant contribution to this area of research by ideally finding a treatment that will help reduce the suffering induced by this devastating disease and ultimately help improve the quality of the lives of these patients. My research project will involve testing the therapeutic potential of recombinant human laminin-111 protein before and after disease onset in a mouse model of MDC1A. This study will allow laminin-111 protein therapy to move forward towards an investigational drug application (IND) with the FDA and set the groundwork for a potential future clinical trial.”

"I am extremely grateful to SAM, which is a truly inspirational charity, for providing financial support towards my research. It is a great honour and privilege to have the opportunity to be part of this pioneering world-class research.”  

 

When Will We Have A Cure?

If only we knew the answer to that question! Research is currently concentrated in two main areas. Firstly, in the short term (2-5 years), we aim to support research into finding treatments for CMD - i.e. something to slow down the progression of the disease. A cure is the eventual goal, though this may well take another 5-10 years to come to fruition.

We believe that a focused investment in science will lead to CMD treatments which will bring hope to the many thousands of families whose lives have been affected by Congenital Muscular Dystrophy. It is critical that we continue to provide financial support over the next 5-7 years in order to ensure that we reach our goal and maintain impetus.