BENEFITING: CURE CMD
We are the families of children and adults around the globe affected with LMNA related disorders. We have come together to raise funds for an integral heart study that could propel forth a potentially ground breaking, life saving, drug.
LMNA mutations cause the rare diseases in children known as LMNA-CMD or Emery Driefuss Muscular Dystrophy in adults. Both disorders cause deterioration of the heart muscle, or cardiomyopathy, which eventually leads to total heart failure.
Since these disorders are so rare and there are only a few dozen people worldwide affected, drug companies rarely support studies that would benefit this population.
That is why we, the families of individuals with LMNA-CMD or Emery-Dreifuss MD, have decided to work together to raise the funds necessary to support a very exciting drug study that we feel could greatly benefit ourselves or our children. The total cost of the study will be $1.5 million dollars. The ANDRES MARCIO FOUNDATION in Spain has agreed to contribute $375,000 and CONNECTICUTT INNOVATIONS will match up to $750k, if raised. Therefore, our combined goal is to raise $375,000 to push this study forward.
Thank you to all of our generous donors who have given in the past and who have helped us get to this point. Thanks to you we are closer than ever to finding a treatment or cure for this rare group of disorders. I want to stress that we could not have gotten to this point without you. Your past donations have supported studies that were integral in getting us to this point. We now feel that we are on the verge of something great and need your support in order to make our dream a reality... the dream of our children having the chance to live a long and fullfilling life. Thank you for your generosity and giving us all hope for a brighter future.
More Information about the study:
Research in the laboratory of Dr. Howard Worman at Columbia University has demonstrated that a cell signaling pathway known as ERK1/2 is abnormally activated in hearts and skeletal muscle of mice with LMNA. AlloMek Therapeutics has developed a novel drug called CIP-137401 that blocks ERK1/2 activity. Dr. Worman’s lab and AlloMek have teamed up to show that treatment of LMNA affected mice with CIP-137401 significantly improves heart structure and function and prolongs survival. AlloMek is now seeking support for further preclinical testing of CIP-137401 so that it can be advanced to human clinical trials for patients with cardiomyopathy and congenital and other types of muscular dystrophy. It is our hope that, if all goes well, this drug will be in the clinical trial phase in the next 2 years.