CHDI Foundation has teamed up with PTC Therapeutics to try to advance PTC’s work on small-molecule compounds that can reduce the production of huntingtin, the protein responsible for Huntington’s disease.
The compounds have shown promise. They decreased the protein in a mouse model carrying the human huntingtin gene. And they crossed the blood-brain barrier to get to where they need to go for treatment — the brain.
PTC discovered the compounds with its pre-mRNA splicing platform. It also used the technology to develop a treatment for spinal muscular atrophy. It tested this therapy, RG7916, in two Phase 2/3 clinical trials — SUNFISH (NCT02908685) and FIREFISH (NCT02913482).
It is also using the splicing platform to develop a treatment for familial dysautonomia — a genetic disorder that affects the development and survival of certain nerve cells. Massachusetts General Hospital has partnered with it on that work.
“We are excited to collaborate with CHDI to advance our small-molecule huntingtin-lowering program for the treatment of Huntington’s disease,” Stuart W. Peltz, the president and chief executive officer of PTC Therapeutics, said 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.”
The CHDI Foundation is a privately funded non-profit biomedical research organization that focuses exclusively on developing therapies that can reduce the worsening of Huntington’s disease. Its goal is to bring the right partners together to provide strategic scientific direction and accelerate the development of treatments that can reach the clinical trial stage as quickly as possible.
“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, 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.”