CureDuchenne, a nonprofit organization that raises awareness and funds multiple research and development projects to cure Duchenne muscular dystrophy, announces the funding of three new research projects following its third annual CureDuchenne Scientific Summit. CureDuchenne is dedicated 2012 to finding treatments and a cure for Duchenne regardless of the specific genetic mutation by advancing drug development programs, identifying new drug targets that exhibit potential to transform the treatment of Duchenne and help drive the most promising research programs to market. CureDuchenne’s comprehensive research portfolio now funds three new projects that includes development of a new MDX mouse model with duplicated exons, a study with currently approved drugs that may help treat critical cardiac issues and also supports the reformulation of the utrophin upregulator SMT C1100.
“CureDuchenne takes a comprehensive and strategic approach to the projects we fund,” said Debra Miller, founder and CEO of CureDuchenne. “Every Duchenne child is important so we are funding three promising research projects that address a variety of mutations and could lead to better treatments and hope for Duchenne families.”
MDX Mouse Model
There is currently no animal model with a Duchenne muscular dystrophy duplication and this has hindered the design and development of exon skipping drugs for patients with duplicated exons. CureDuchenne is funding the Transgenic Mouse Core at Nationwide Children’s Hospital, to create a mouse that carries a duplication of exon 2 in the Duchenne muscular dystrophy gene. The new model will be used for the first time to examine the effects of administration of antisense drugs and characterizing dystrophin expression. In addition, the study will examine and characterize duplication skipping in a human fibroblast cell line with a focus on determining the efficiency of skipping larger multi-exon duplications.
Spironolactone and Lisinopril/Losartan – Ohio State University Project A study conducted at Ohio State University has recently shown that a combination of the FDA approved drugs spironolactone and lisinopril improves both skeletal muscle and heart function and histology in a mouse model of Duchenne. Cardiomyopathy in Duchenne muscular dystrophy contributes to heart failure and is a leading cause of death. Duchenne patients show myocardial fibrosis well before functional impairment and early treatment using drugs with an antifibrotic effect may be beneficial.
“The funding from CureDuchenne will allow us to test whether spironolactone can improve muscles in Duchenne muscular dystrophy mice in combination with other standard-of-care drugs,” said Jill A. Rafael-Fortney, Ph.D., Dept. of Molecular and Cellular Biochemistry, Ohio State University. “Since spironolactone is routinely used in pediatric patients with heart diseases; showing improved efficacy of this drug treatment compared or combined with other standard-of-care drugs could quickly translate to better treatments for Duchenne patients.”
CureDuchenne is pleased to have the support of Team Joseph, a nonprofit organization, who provided funding for this project.
Summit Corporation plc
CureDuchenne joined forces with several other Duchenne foundations including the MDA, PPMD, Charley’s Fund, Foundation to Eradicate Duchenne and the Nash Avery Foundation to support the development of SMT C1100, an orally available small drug that works by producing a naturally occurring protein called utrophin that substitutes for the missing dystrophin. Utrophin upregulation has the potential to treat all Duchenne patients, regardless of their specific genetic mutation. The nonprofit community came together to finance the reformulation of SMT C1100 and complete a new phase I trial in healthy volunteers during 2012. The Phase I trial, if approved by the regulatory agency, will be a double blind, placebo controlled ascending dose, safety and tolerability and pharmacokinetic study.
We expect results from this study to be available during the third quarter of 2012. If successful, this trial is expected to rapidly translate to a Phase IIa Duchenne patient trial.
CureDuchenne, a national nonprofit organization located in Newport Beach, Calif., is gaining international attention for its efforts to raise funds and awareness for Duchenne – a devastating and lethal muscle disease in children. One in every 3,500 male births results in a child being afflicted with the disease. More than 24,000 boys are living with the disease in the United States alone, and most will not survive their mid-20s.
The funds CureDuchenne raises support the most promising research projects aimed at treating and curing the disease with the help of its distinguished panel of Scientific Advisors from around the world. To date, seven research projects have made their way into human clinical trials with support from CureDuchenne. This accelerated push to move research from the lab into clinical trials could save the lives of those afflicted and give them hope for halting the progress of the disease. Very few health-related nonprofits have been as successful in being a catalyst for human clinical trials.