Rare Disease Report

PTC's Splicing Technology Makes Its Way to Huntington's Disease

APRIL 05, 2018
Mathew Shanley
PTC Therapeutics, Inc. and the CDHI Foundation Inc. are partnering for a research collaboration that will hopefully advance the former’s Huntington’s disease (HD) program.

The announcement was made yesterday, and the program intends to optimize small molecule compounds that have been identified with PTC’s mRNA splicing technology platform to reduce the production of the huntingtin protein.

“We are excited to collaborate with CHDI to advance our small-molecule huntingtin-lowering program for the treatment of Huntington’s disease,” said Stuart W. Peltz, Ph.D., president and chief executive officer of PTC Therapeutics in a press release. “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. We are proud that this program utilizes our proprietary splicing platform developed utilizing cutting edge technology to advance the identification of new therapeutics for patients suffering from rare diseases.”

The compounds have been shown to be orally bioavailable in animals, blood-brain barrier penetrant, and effective in decreasing the amount of huntingtin protein in a mouse model that has the expanded human huntingtin transgene. PTC’s pre-mRNA splicing platform ultimately enabled the discovery and development of small-molecule huntingtin expression inhibitors.

“After following PTC’s Huntington’s disease small-molecule program for several years, we are pleased to start working with the company more directly,” said Robi Blumenstein, president of CHDI Management. “It’s great that PTC’s pre-mRNA splicing expertise has been applied to Huntington’s disease with promising results. 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. We look forward to contributing to and accelerating this program.”

In October, PCT announced that its joint development program with Roche and the SMA Foundation (SMAF) transitioned into the pivotal part of a study that is evaluating the safety and efficacy of the SMN2 splicing modifier RG7916 in pediatric and adult patients with Type 2/3 spinal muscular atrophy (SMA). Part 1 of the FIREFISH study assessing the drug in infants and babies with Type 1 SMA showed it to be safe and tolerable.

Additionally, the splicing technology platform is being used in several other programs, including a program in late-stage chemical optimization to identify correctors of IKBKAP splicing to treat familial dysautonomia as part of a partnership with the Massachusetts General Hospital.

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