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Oral Splicing Modifiers that Systemically Lower Huntington Disease Protein Discovered Through PTC Therapeutics' Innovative Splicing Platform

December 20, 2021
-- Results published in Nature Communications --
-- Description of novel splicing mechanism causing inhibition of HTT gene expression --

SOUTH PLAINFIELD, N.J., Dec. 20, 2021 /PRNewswire/ -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced the Nature Communications publication characterizing the novel splicing mechanism induced by compounds identified from the Huntington Disease (HD) program. These splicing modifiers were discovered through PTC's innovative splicing platform and were shown to specifically and selectively lower huntingtin protein through the modulation of pre-messenger RNA splicing.

"The mechanism induced by HD splicing modifiers described in the Nature Communications paper shows an incredibly innovative and novel approach to regulate gene expression to treat diseases," said Stuart W. Peltz, Ph.D., Chief Executive Officer, PTC Therapeutics, Inc. "The published results show that PTC's splicing platform can be expanded to identify compounds that induce splicing resulting in lower HTT protein levels. This is an important breakthrough that expands the splicing platform's capabilities. While the splicing platform was first used to identify compounds that increase SMN levels to treat SMA patients, this was the first time that splicing modifiers identified caused the inhibition of gene expression, resulting in reduced HTT protein levels. These results show how this important technology can be used to identify compounds that regulate gene expression to potentially treat patients suffering from many different diseases."    

HD is a rare, inherited disease that causes the progressive degeneration of nerve cells in the brain, impacting a person's functional abilities. While HD can present at any age, it is most prevalent in people 30 to 50 years old. It affects approximately 45,000 people in the United States. HD is caused by a mutation in the huntingtin gene, which is responsible for creating huntingtin protein (HTT). As time progresses, the mutated huntingtin protein forms clumps in the brain cells, resulting in damaged cells and eventually cell death. There are no treatments for the underlying cause of HD.

About PTC
PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to innovate to identify new therapies and can globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines. Our mission is to provide access to best-in-class treatments for patients who have little to no treatment options. The company's strategy is to leverage its strong scientific and clinical expertise and global commercial infrastructure to bring therapies to patients.  We believe this allows us to maximize value for all our stakeholders. To learn more about PTC, please visit us at and follow us on Instagram, Facebook, Twitter, and LinkedIn.  

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