Last week, we presented at the 40th Annual J.P. Morgan Healthcare Conference, an annual healthcare investment symposium connecting healthcare industry leaders, innovators, and the broader healthcare industry. Even though this year’s meeting was (once again) virtual, the excitement for everything that’s to come in 2022 was palpable – especially for us at PTC, as 2022 is poised to be pivotal for our company.

Why are we so excited? Because as we progress our ongoing clinical trials across a variety of rare diseases and launch 2022 programs, we’re living out our mission: to extend life’s moments for patients with rare diseases and their loved ones.

Here are some of the anticipated highlights:

In the first quarter of 2022, we’re planning to initiate the PIVOT-HD Phase 2 trial of PTC518 in patients with Huntington’s disease (HD), a rare, hereditary, genetic disorder of the central nervous system. Learn more about HD here.
From the Bio-e platform, the registration-directed CardinALS trial of PTC857 in amyotrophic lateral sclerosis (ALS) patients is expected to be initiated in the second quarter of 2022.
On the gene therapy platform front, we’re expecting an opinion from the European Medicine Agency’s (EMA) Committee for Medicinal Products for Human Use (CHMP) for PTC-AADC, the first gene therapy for AADC deficiency (AADCd), in April 2022. Submission of a Biologics License Application (BLA) to the Food and Drug Administration (FDA) for PTC-AADC is expected in the second quarter of 2022. AADCd is a rare genetic disorder that affects the brain. It interferes with the way the cells in the nervous system talk to each other through a person’s neurotransmitters. Learn more about AADCd here.
Results from Study 041 for Translarna for the treatment of nonsense mutation Duchenne muscular dystrophy, or nmDMD, are expected mid-year 2022. If the results are positive, it could support a re-submission of a New Drug Application (NDA) to the FDA. More info about DMD can be found here.
Results for MIT-E, the registration-directed trial of vatiquinone in mitochondrial disease associated seizures, are expected in the fourth quarter of 2022. Here you can learn more about MIT-E and our work in mitochondrial disease associated seizures.
By the end of 2022, results are expected from the Phase 3 registration-directed trial, APHENITY, for PTC923 in patients with PKU, a monogenetic disorder in which patients lack significant phenylalanine hydroxylase activity, leading to high levels of phenylalanine that causes cognitive disabilities and seizures. You can read more about PKU and one of PTC’s own scientists who has worked on PTC923 since the earliest stages of its development and optimization in our latest newsroom story.
We are also kicking-off our eighth annual Strategies to Realize Innovation, Vision, and Empowerment (STRIVE) awards program. STRIVE recognizes and supports nonprofit organizations committed to serving rare disease communities through the creation of programs that address unmet needs for the Duchenne community. Learn more about STRIVE here and look out for the opening of the 2022 application period!
Finally, last week we announced the launch of our 2022 Talent Pipeline Program. This immersive, one-year, global initiative is designed to provide recent college graduates with high-quality, real-world opportunities at work. Participants of the program will receive benefits like mentorship, job coaching, career counseling and leadership development training. Learn more about the fellowship program here and check back for more information on applying!

We can’t wait to share these moments with you in 2022!