Fight SMA has a new partner in its search for a treatment or cure for spinal muscular atrophy (SMA). The international nonprofit organization has established a research and development collaboration with PTC Therapeutics, Inc (PTC) to identify and develop a compound that can be used to treat SMA. SMA is the leading genetic cause of infantile death, yet there currently is no treatment available. PTC Therapeutics, Inc. is a biopharmaceutical company focused on the discovery and development of orally administered, proprietary small-molecule drugs that target post-transcriptional control processes, and has made great strides toward developing compounds for a variety of genetic disorders including cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD).

“This is an exciting opportunity to push toward a treatment for SMA,” said Dr. Christian Lorson, PhD, Scientific Director of FightSMA. “The unique genetic context of SMA is well-suited for the type of therapeutic intervention in which PTC Therapeutics specializes, and with the highly skilled scientists at PTC, we are hopeful that great strides can be made towards identifying a drug for this devastating disease.”

“We’re thrilled that PTC Therapeutics is committed to the fight,” said Fight SMA President Martha Slay. “The team at PTC is dedicated and experienced. Theirs is an incredible combination of talent and determination to see these therapies delivered to children and adults suffering with SMA.”

PTC Therapeutics, Inc. is also a sponsor of the annual international Fight SMA research conference, The Good Fight. The conference will be held in Washington, DC from April 22nd to the 24th.

Sickle cell anemia and spinal muscular atrophy are genetic diseases that are serious, but relatively uncommon.

Sickle cell anemia is an inherited blood disorder that affects about 70,000 people in the United States, mostly blacks. Spinal muscular atrophy is a motor-neuron disorder that affects about 1 in 6,000 newborns.

[New company President and CEO Michael] Herr, who came to Orphagenix from the University City Science Center, a Philadelphia incubator for early-stage life science and technology companies, says both diseases are well-suited to the gene-replacement process Kmiec and Parekh-Olmedo developed.

The two researchers found a way to introduce a minuscule fragment of DNA into a cell where a portion of the DNA is damaged.

The introduced DNA binds to the damaged portion of the DNA, triggering the cell to heal itself. What is introduced into the cell is eventually released out of the cell.

The article credits the Orphan Drug Act, passed in 1983, to Orphagenix’s interest in SMA. The law provides a host of incentives, from a streamlined review process to a tax credit that allows companies to recoup as much as 50 percent of their research-and-development costs.

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