Parent Project Muscular Dystrophy Awards UCLA $50,000 Exploratory Grant for Evaluation of Exon Skipping Enhancers in Duchenne

PPMD announced today that they will award Dr. M. Carrie Miceli and her team at UCLA’s David Geffen School of Medicine and College of Letters and Science, a $50,000 exploratory grant to continue their evaluation of exon skipping boosters for the treatment of Duchenne. 


Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately one in every 3,500 to 5,000 live male births. The loss of a key muscle protein called dystrophin causes muscle wasting and weakness, eventually leading to the loss of ambulation, difficulty breathing, and heart failure.  Death typically occurs in the mid-to late 20s.


Duchenne is often caused by frame-shifting mutations that abolish dystrophin expression that can be repaired by antisense oligonucleotide (AON) directed “exon skipping.” Ongoing clinical trials of exon 51 AON demonstrate dystrophin rescue and slowing of disease progression. Adding a targeted small molecule drug, in combination with the AON, may be a means of increasing skipped dystrophin levels and thereby increasing the effectiveness of treatment with AON alone. Dr. Miceli and her team at UCLA have identified drugs that boost AON-directed exon 51 skipping, which impinge on a common pathway. This has led her to predict that second-generation drugs may have even greater skip boosting activity. This grant will allow Dr. Miceli to continue exploring therapies that will promote skipping alone or in combination with AON directed against exon 51 or other exons currently in the clinical pipeline.

“Exon skipping is one of the most promising technologies being explored in Duchenne today. Dr. Miceli and her team at UCLA are anticipating the next step in exon skipping technology, working to maximize the skipping ability of these potential therapies. While it is important to support therapies that are in the late stages of the clinical trial process, PPMD also remains dedicated to funding early-stage research from top scientists like Dr. Miceli.”

 Pat Furlong, PPMD Founding President

Dr. Miceli is Co-Director of the Center for Duchenne Muscular Dystrophy and Professor of Microbiology, Immunology & Molecular Genetics at UCLA’s David Geffen School of Medicine and the College of Letters and Science. She explained her team’s project in more detail:

“Combination therapies that boost exon skipping by targeting muscle calcium pathways may lead to additional benefit by normalizing pathogenic Ca2+ leak also observed in Duchenne. As more treatments are realized for DMD, it will be important to understand how targeting multiple pathways can lead to synergies that result in even greater therapeutic efficacy.”

 Dr. Miceli, UCLA  

To learn more about Parent Project Muscular Dystrophy’s grant opportunities, please visit our website. To see a full list of what we are funding, click here

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Comment by John D. Porter, PhD on February 26, 2015 at 10:00am

Sorry for the delay in responding, David.  What these drugs are designed to do is to increase the efficiency of the exon-skipping oligonucleotide drugs that are already in clinical development.  That increase in efficiency obtained through the combination drug therapy would mean that more dystrophin is produced than would be produced by the oligonucleotide drug alone.  This higher level of dystrophin likely would increase the maintenance effect of these drugs, but most likely would not restore lost strength.  We need to keep pushing all candidate therapeutics toward the finish line in an effort to broaden the effectiveness of therapies, just as you suggest.

Comment by David on January 30, 2015 at 9:05pm
Does 'booster' imply that treatment would restore strength since lost in older patients? Current generation of exon skipping has focused on maintenance only.

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