Tuesday, December 18, 2012

Old drug finds new life treating muscular dystrophy

Dr. Stanley Nelson
CIRM grantees at UCLA published a paper last week showing that a drug that’s currently being tested for other uses might also be effective in treating people with muscular dystrophy. The group got a $6 million Early Translational award from CIRM to turn this research into a clinical trial for the disease (here's a description of their project).

The researchers have a great story to tell. The lead author Stanley Nelson and his wife Carrie Miceli, who also participated in the research, have a young son with muscular dystrophy. UCLA writes about the couple, using the acronym DMD for a specific type of muscular dystrophy called Duchenne muscular dystrophy:
The research by Miceli and Nelson, who are married, is driven by more than just scientific curiosity. Their youngest son, Dylan, 11, was diagnosed with DMD in 2004. While he's still ambulatory — many DMD patients require the use of wheelchairs by about age 10 — Dylan can no longer run or climb stairs, and he can't shoot a basketball over his head like other boys his age. Despite these challenges, Miceli said Dylan remains a happy, funny and engaged boy, full of life and passion. 
"We entered into this field because of the diagnosis of our son, but we hope our research can help many others," she said. "There are drugs that can help manage the symptoms of the disease but nothing that changes its course dramatically. We're trying to correct the defect that causes DMD with highly personalized genetic medicine."
Their research was published in the journal Science Translational Medicine. Although the potential therapy involves a drug, not a stem cell, the team used patient-specific stem cells to find that drug. This type of stem cell screen is becoming an increasingly common way of finding new therapies. The group started with cells from people with Duchenne muscular dystrophy. Those cells contain the mutation that causes the muscles to waste away. They then converted those cells to embryonic-like iPS cells, which have the ability to form any cell in the body. Then, they matured those cells into muscle cells that, since they have the mutation, also show signs of the disease in a lab dish. They could then expose those cells to many thousands of different drugs, looking for ones that seem to improve the symptoms.

Over the next few years they are hoping to do longer-term studies to see if the drug combination is effective over time, and then eventually start clinical trials to see if it works in people. Right now, there is no effective treatment for this fatal disease.


ResearchBlogging.orgKendall GC, Mokhonova EI, Moran M, Sejbuk NE, Wang DW, Silva O, Wang RT, Martinez L, Lu QL, Damoiseaux R, Spencer MJ, Nelson SF, & Miceli MC (2012). Dantrolene enhances antisense-mediated exon skipping in human and mouse models of duchenne muscular dystrophy. Science translational medicine, 4 (164) PMID: 23241744

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