PTC Therapeutics, CHDI Foundation Announce Partnership for Small-Molecule Compounds in Huntington


The program seeks to optimize small-molecule compounds to decrease the production of mHtt through PTC’s splicing platform.

Stuart W. Peltz, PhD

PTC Therapeutics, in collaboration with the CHDI Foundation, has announced research plans to advance the Huntington disease (HD) program at PTC.

The program seeks to optimize small-molecule compounds to decrease the production of huntingtin protein (mHtt). These compounds are identifiable via PTC’s splicing technology. Currently, the known compounds have been shown to be orally bioavailable in animals, penetrative of the blood-brain barrier, and efficacious in decreasing the mHtt in a mouse model that in turn expanded human huntingtin transgene.

“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, PhD, the president and chief executive officer of PTC Therapeutics.1 “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.”

PTC’s pre-mRNA splicing platform has previously shown success in identifying the SMN2 splicing modifier RG7916. Using it in collaboration with Hoffman-La Roche AG, and the SMA Foundation, RG7916 is currently being assessed in pivotal clinical trials for the treatment of spinal muscular atrophy (SMA). The first portion of the FIREFISH study assessing it in infants with Type 1 SMA revealed its safety and tolerability.

The platform is also being utilized in late-stage chemical optimization to identify IKBKAP splicing correctors to treat familial dysautonomia, in collaboration with Massachusetts General Hospital.

“After following PTC’s Huntington’s disease small-molecule program for several years, we are pleased to start working with the company more directly,” Robi Blumenstein, MBA, the 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.”

This is the second venture announced by the CHDI Foundation in as many weeks. Just days ago, the foundation announced a partnership with the Critical Path Institute to launch the C-Path Huntington’s Disease Regulatory Science Consortium (HD-RSC), which includes 20 different member organizations.2

The goal is to “work to advance innovation in regulatory science methods, supporting clearer development and regulatory pathways that lead to the approval of [HD] therapeutics,” according to the CDHI Foundation.

Blumenstein said that the consortium should provide a forum for those interested in HD therapeutics, including regulators, to participate in developing a regulatory pathway to allow patients and families earlier access to therapies. “This aligns perfectly with CHDI’s mission to rapidly and collaboratively develop therapeutics that substantially improve the lives of individuals affected by Huntington’s disease,” he said.

The HD-RSC will work as a platform for the sharing and standardization of clinical trial data in order to make modeling tools, biomarkers, and clinical outcomes assessments for regulatory endorsement. The tools will be made publicly available.


1. PTC Therapeutics and CHDI Foundation Announce a Collaboration on a Small-Molecule Therapeutic for Huntington’s Disease [press release]. South Plainfield, NJ: CDHI Foundation; April 4, 2018. Accessed April 5, 2018.

2. C-Path and CHDI launch consortium to accelerate development of Huntington’s disease therapies [press release]. South Plainfield, NJ: CDHI Foundation; March 28, 2018. Accessed April 5, 2018.

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