NEW YORK—The Spinal Muscular Atrophy Foundation announced last month it agreed to fund research efforts targeting the disease by PTC Therapeutics Inc., a biopharmaceutical company focused on the discovery and development of orally administered, small-molecule drugs that target post-transcriptional control processes.
The collaboration will look to leverage PTC's proprietary Gene Expression Modulation by Small-molecules (GEMS) technology to identify and develop new small-molecule therapeutics for use in the treatment or prevention of spinal muscular atrophy (SMA), a neuromuscular disease and the leading genetic cause of death among infants and toddlers.
SMA's cause and severity are linked to mutations in two genes, according to Cynthia Joyce, executive director of the SMA Foundation. "The first gene is a loss-of-function mutation and it is not targeted," she says. "But there is a second gene where the mutation affects the production of the SMN protein. It is the deficiency of that protein that regulates the severity of the disease."
In the collaboration with PTC, the hope is that the GEMS technology can help identify and exploit the regulatory mechanisms found in m RNA to identify small-molecule drugs that can effectively upregulate the production of SMN and thus effectively treat SMA.
"Our scientists have looked at the approach that PTC is taking toward drug discovery and they are in agreement that this is a novel approach, one that is not currently being explored under other research we have funded," says Joyce.
Officials at PTC were unable to comment on the collaboration as it has entered the "quiet period" required by law as it leads up to an initial public offering of stock sometime later this year.