Rare Daily Staff

PTC Therapeutics and the nonprofit biomedical research organization CHDI Foundation have entered into a research collaboration to optimize small-molecule compounds—identified using PTC’s splicing technology platform—that are potential treatments for Huntington’s disease, a rare, genetic, neurodegenerative disorder.

The PTC compounds have been shown to be orally bioavailable in animals, able to cross the blood-brain barrier, and effective in decreasing the amount of huntingtin protein in a mouse model that has the expanded human huntingtin transgene.

Huntington’s disease causes behavioral, cognitive, and motor impairments. The symptoms progress in severity and lead to death within 15 to 25 years of clinical onset. There are currently no therapeutics approved that slow the progression of the disease.

“It’s great that PTC’s pre-mRNA splicing expertise has been applied to Huntington’s disease with promising results,” said Robi Blumenstein, president of CHDI Management. “A pill that lowers the amount of huntingtin protein and treats the underlying cause of the disease holds the promise of improving the quality of life of people with Huntington’s disease and their families.”

PTC Therapeutics did not disclose terms of the collaboration.

The company is pursuing therapies in a number of rare disease areas including Duchenne muscular dystrophy, SMA, and familial dysautonomia.

“Finding a potential treatment for Huntington’s disease fits with our mission to focus on treatments for disorders that have an urgent need for therapeutic options,” said Stuart Peltz, president and CEO of PTC Therapeutics.

April 5, 2018
Photo: Stuart Peltz, president and CEO of PTC Therapeutics