WHAT HAVE WE ACHIEVED SO FAR?
Thanks 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.
- SAM 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 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.
"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”. Gillian Dunlop, Chairperson of SAM
WHEN WILL WE HAVE A CURE?
If only we knew the answer to that question.....Research is currently concentrating 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.
"The work we are doing in raising money to fund research through the SAM charity gives me hope. There is great cause for optimism that within the next 5-7 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”. Tracy McCausland, founder of SAM