From the press release by Cold Spring Harbor Laboratory:
CSHL researchers demonstrate efficacy of antisense therapy for spinal muscular atrophy
Chemically modified RNA segments called ASOs delivered into spinal cords of adult and neonatal mice provide a long term rescue from disease symptoms
Cold Spring Harbor, N.Y. – The devastating, currently incurable motor-neuron disease spinal muscular atrophy (SMA) might soon be treated with tiny, chemically modified pieces of RNA called antisense oligonucleotides (ASOs).
Scientists at Cold Spring Harbor Laboratory (CSHL) and California-based Isis Pharmaceuticals have succeeded in reversing symptoms of Type III SMA, a relatively mild form of the disease, in mice by introducing an ASO into their spinal cords. The ASO fixes the molecular mistake underlying SMA by redirecting a cellular editing process called alternative splicing.
“Validating ASO efficacy in animal models is a crucial pre-clinical step before this strategy can be applied in SMA patients,” says CSHL Professor Adrian Krainer, Ph.D. “We have now successfully demonstrated this therapeutic efficacy in the mouse nervous system. Although the mice only have the mild symptoms of Type III SMA, our treatment can effectively correct them.”
Based in part on the team’s findings, which appear online ahead of print on July 12th in Genes and Development, Isis selected an antisense drug candidate to move forward in development to treat SMA.
“SMA is the leading genetic cause of infant mortality and has limited treatment options for patients. With Dr. Krainer’s lab at Cold Spring Harbor Laboratory, we have made significant progress in identifying a drug development candidate and conducting early preclinical studies to access its therapeutic potential,” said Frank Bennett, Ph.D., Senior Vice President of Research at Isis Pharmaceuticals. “We are committed to advancing this program toward the clinic.”
To read the full press release, click here.
To read the abstract of the study, click here.
Dr. Adrian Krainer is a friend of FightSMA and a regular speaker at FightSMA’s Annual Conference. At the 2010 FightSMA Annual Conference, his presentation was entitled “Antisense Correction of SMN2 Splicing in the CNS for SMA Therapy.”
Beginning now and for the next three years, families and groups in the SMA community will raise funds to build a safe foundation, deliver genes to an SMA model, and produce adequate vector (gene delivery) supply. These efforts will support Dr. Brian Kaspar (pictured left) of Nationwide Children’s Hospital and The Ohio State University and other collaborating scientists.
