#Japan #Tokyo #PTC Therapeutics #Sephience #Phenylketonuria

PTC Therapeutics Secures Approval for Sephience™ in Japan

PTC Therapeutics, Inc. has marked a significant achievement with the recent approval of its drug Sephience™ (sepiapterin) by the Japanese Ministry of Health, Labor and Welfare (MHLW). This decision allows for the treatment of phenylketonuria (PKU) in both children and adults across all levels of disease severity. This is the first product approval for PTC in Japan, signifying a critical step in the company's commitment to improving patients' lives.

Dr. Matthew B. Klein, CEO of PTC Therapeutics, stated, "The approval of Sephience in Japan is an important milestone for Japanese patients living with PKU as well as for PTC. We are thrilled to have secured this approval within a mere six months of gaining similar approvals in both the EU and the US. This not only reflects our dedication to our patients but also our global mission to deliver advanced treatment options."

Sephience™ functions as a natural precursor of the enzymatic co-factor BH4, which is crucial for the enzyme phenylalanine hydroxylase (PAH) that helps break down phenylalanine (Phe), an essential amino acid. PKU patients lack the ability to properly metabolize Phe, resulting in its unsafe accumulation which can lead to severe neurological impairment. Effective management of phenylalanine levels is critical to prevent the detrimental effects associated with high Phe levels, which can lead to permanent intellectual disabilities and other health complications if not treated.

This pivotal approval in Japan reinforces PTC's overarching goal: to ensure that individuals dealing with rare diseases have access to the medication they need. At present, it's estimated that around 58,000 individuals worldwide are living with PKU, with newborn screening programs facilitating early diagnosis and intervention.

With the anticipation of launching Sephience in Japan, PTC Therapeutics is now focused on engaging in pricing discussions, which are projected to wrap up in the first quarter of 2026. The company aims to roll out the product shortly following these discussions, ensuring that it reaches patients swiftly. The approval is expected to enhance the treatment landscape for PKU significantly in Japan, benefiting countless patients and families.

In a broader context, the introduction of Sephience™ is part of PTC's commitment to advancing a robust pipeline of innovative therapies for patients with rare conditions. The company plans to continue leveraging its scientific expertise and global commercial framework to deliver transformative solutions for unmet medical needs. PTC Therapeutics remains dedicated to providing support and clarification regarding the ongoing developments for Sephience™ and its potential impact on healthcare in Japan.

As we move forward, patients and stakeholders are encouraged to stay informed about the pricing negotiations and eventual launch of Sephience™ through PTC Therapeutics' official communications. This release serves as a beacon of hope for individuals managing PKU and a testament to PTC's relentless pursuit of advancements in therapeutic solutions for rare disorders.

For more updates and information on Sephience™ and the wider PKU community, stakeholders can follow PTC Therapeutics’ announcements and resources available to support those impacted by this condition.