Investigators at Duke University have turned to a new gene-editing tool to come up with a new approach to Duchenne muscular dystrophy (DMD) that theoretically could apply to a majority of the boys afflicted with the fatal rare disease.
The research team used CRISPR, which is used to retool problem genes. But first, a little background on the disease.
DMD is spurred by the body's inability to produce dystrophin, a protein essential for the proper construction of muscles. The disease is caused when one of 79 exons in a chain needed to make dystrophin is mutated, which is well understood by a slate of biotechs which are working on exon "skipping" approaches that knit together a needed response without the mutated exon that breaks the chain. But it's an approach that can be limited to small segments of the population, depending on which exon is being skipped.
At Duke, the scientists found that when they surgically removed whole sections of the exon chain in the gene and multiplied the effect many times over, they could overcome a natural response to repair DNA and converted DMD into Becker muscular dystrophy, which can be far more benign.
"What makes CRISPR exciting is that it is easy, cheap and fast to work with compared to other methods scientists have been developing in the past decade," said David Ousterout, a graduate student in Charles Gersbach's lab and first author of the study.
As in all FierceBiotech Research stories, it's important to note that this is preclinical work. It was all done in the lab with cultured muscle cells taken from DMD patients. So there's a lot of hard work ahead to see if it's an option for clinical development. But the investigators note that this approach could apply to 60% of all patients.
"We still need to improve the efficiency and ensure the safety of the CRISPR-based approach," said Gersbach. "We also need to tackle the challenge of how this would be delivered to a DMD patient. We still have a long way to go, but this is a very promising start."
The study was published on Feb. 18 online in Nature Communications.