PTC Therapeutics, Inc. is a US pharmaceutical company focused on the development of orally administered small molecule drugs and gene therapy which regulate gene expression by targeting post-transcriptional control (PTC) mechanisms in orphan diseases. In September 2009, PTC entered into an agreement with Roche for the development of orally bioavailable small molecules for central nervous system diseases. PTC acquired the Bio-e platform in 2019.

Products

In 2017, PTC acquired Emflaza (deflazacort) from Marathon Pharmaceuticals. PTC also owns Translarna, (Ataluren) marketed for nonsense mutation Duchenne muscular dystrophy. Together, the two products generated revenues of 174 million dollars and 260 million dollars in 2017 and 2018 respectively. PTC has the commercialization rights for WAYLIVRA (volanesorsen) in Latin America. In 2018, PTC acquired Agilis Biotherapeutics and a gene therapy candidate, GT-AADC, with its compelling clinical data in treating aromatic L-amino acid decarboxylase (AADC) deficiency. AADC deficiency is a rare CNS disorder arising from reductions in the enzyme AADC that result from mutations in the dopa decarboxylase (DDC) gene. As of 2024, the AAV based treatment for AADC deficiency has been approved by the FDA and commercialized in the United States as Kebilidi. It is the first FDA-approved gene therapy treatment for AADC deficiency. This same product was granted EMA approval for use in the European Union under the name Upstaza.

Pipeline

In 2020, PTC acquired Censa Pharmaceuticals, Inc., a biopharmaceutical company focused on the development of CNSA-001 (sepiapterin), a clinical-stage investigational therapy for orphan metabolic diseases, including phenylketonuria (PKU) and other diseases associated with defects in the tetrahydrobiopterin (BH4) biochemical pathways diagnosed at birth. In 2020, PTC announced the FDA approval of Evrysdi (risdiplam) for the treatment of spinal muscular atrophy (SMA) in adults and children 2 months and older.