Exon skipping, a treatment strategy currently being developed for Duchenne muscular dystrophy (DMD), causes cells to "skip" (splice out, or leave out) certain sections of genetic code called exons during the protein production process.
Thomas Cooper, a professor in the Department of Pathology and Immunology at Baylor College of Medicine, is a longtime MDA research grantee who has current MDA support to develop oligonucleotide-based therapies for myotonic muscular dystrophy (MMD, also known as DM).
Margaret Wahl, MDA's medical and science editor, talked with Cooper about his research.
Complete results of a U.K. trial of an exon-skipping drug in boys with DMD show drug is safe, increases dystrophin production
Complete and extremely encouraging findings from a phase 1b-2 trial of eteplirsen (AVI-4658), an exon skipping drug in development to treat a portion of the Duchenne muscular dystrophy (DMD) population, show the compound is safe and well-tolerated, and that it can significantly increase production of the needed dystrophin protein in recipients without eliciting an unwanted immune response.
Clinical trials of two different exon-skipping compounds show encouraging results; Duchenne MD participants are being sought for new trials
sClinical trials that use compounds called antisense oligonucleotides to cause skipping of exon 51 of the dystrophin gene in individuals with Duchenne muscular dystrophy (DMD) are moving forward in the United States and elsewhere.
Exon skipping for DMD is a strategy that coaxes muscle fibers to ignore, or "skip," the genetic instructions for certain parts of the dystrophin gene so that functional...
When mice with an SMA-like disease received a synthetic antisense molecule, they made more full-length SMN protein; newborn mice grew longer tails
Scientists have found that mice with a disease resembling a mild form of spinal muscular atrophy (SMA) known as SMA type 3 showed more production of a needed protein in their spinal cords and more normal-looking ears and tails after treatment with a gene-modifying molecule that researchers hope could become a treatment for human SMA.
About the new findings
Further analysis of data from a trial of the exon-skipping drug AVI4658 showed some participants had greatly increased dystrophin production
The biopharmaceutical company AVI BioPharma has announced additional encouraging results from its clinical trial of AVI4658, an experimental treatment for Duchenne muscular dystrophy (DMD).
The new results show that, at higher doses, AVI4658 can result in substantial production of the needed dystrophin protein in muscle fibers.
The company has not yet released results of any tests of muscle...
Researchers have identified a compound that helps cells produce more full-length SMN protein from the backup SMN2 gene.
Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA).
PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.