Cure CMD is a voluntary not for profit organization. Its mission is to find treatments and cures for a broad range of congenital muscular dystrophies (ones that start at birth). The organization issues multiple research grants to fund congenital muscular dystrophy studies each year. In 2012, through the generosity of so many people, Cure CMD funded a genetic therapy research grant led by Dr. Gisele Bonne. This team is studying Daniel and Fletcher's form of muscular dystrophy. It is exploring whether a gene therapy approach is viable. The genetic study has yielded positive results and much optimism. In addition, two other research labs have recently published data showing the positive effect of a type of cancer drug in mouse models with L-CMD.


One of the parts of the body affected in children with L-CMD is the heart. The heart develops both an abnormal rhythm and also dilates. This tends to happen in the teenage years. All the medications we currently have available treat only the symptoms. In other words they help with the abnormal rhythm and they help the dilated enlarged heart beat, but don’t stop this from occurring. A top priority that has been identified for Cure CMD is to find drugs that can stop disease progression in the heart. To this end, Cure CMD has partnered with Cellular Dynamics International (CDI) to fund the development of LMNA induced pluripotent stem cell lines (iPS), which can be used to make heart cells in a petri dish, allowing scientists to study the heart issues in this disease more effectively.

This fundraiser will raise $30K which is our portion of the $51K required for the team to complete the next phase of this research. This research project will be led by Dr Bang, a stem cell scientist in San Diego, California. If the iPS lines have a characteristic disease signature, they can be used to screen for potential treatments. By using advancements in medical technology we can now screen thousands of drugs in several days, quickly determining if any of these existing drugs can protect the hearts of children like Daniel and Fletcher.

THE RESEARCH PLAN

Your donation will allow researchers to:

1. Transform the four different stem cell lines into heart cells. These heart cells are plated on a dish and actually
beat in unison! This provides a system to study human derived heart cells from people who are affected.

2. Use a robotics machine and high powered microscopes to perform drug screening of thousands of drugs at a
time to look for potential ways to protect the heart from disease progression. 

RESULT: We hope to identify several drugs that can be shown to treat heart cells from people with L-CMD in a dish.

NEXT: Trial the identified drugs in mice with L-CMD, measure the effect and if shown to work, trial in patients like Daniel and Fletcher.

Because this disease is so rare, it is up to the families to fund the research until enough progress is made for a pharmaceutical company to take an interest.