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
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financi ...
.
In September 2009, PTC entered into an agreement with
Roche
F. Hoffmann-La Roche AG, commonly known as Roche (), is a Switzerland, Swiss multinational corporation, multinational holding healthcare company that operates worldwide under two divisions: Pharmaceuticals and Diagnostics. Its holding company, ...
for the development of orally bioavailable
small molecule
In molecular biology and pharmacology, a small molecule or micromolecule is a low molecular weight (≤ 1000 daltons) organic compound that may regulate a biological process, with a size on the order of 1 nm. Many drugs are small molecules; ...
s for
central nervous system
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain, spinal cord and retina. The CNS is so named because the brain integrates the received information and coordinates and influences the activity o ...
diseases. PTC acquired the Bio-e platform in 2019.
Products
In 2017, PTC acquired
Emflaza (deflazacort) from
Marathon
The marathon is a long-distance foot race with a distance of kilometres ( 26 mi 385 yd), usually run as a road race, but the distance can be covered on trail routes. The marathon can be completed by running or with a run/walk strategy. There ...
Pharmaceuticals. PTC also owns Translarna, (
Ataluren) marketed for
nonsense mutation
In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a ''nonsense codon'', or a premature stop codon in the transcribed mRNA, and leads to a truncated, incomplete, and possibly nonfunctional protein product. No ...
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pe ...
. 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.
In 2024, Novartis has committed $1 billion upfront in a licensing deal with PTC Therapeutics for an experimental treatment for Huntington’s disease, with the potential for an additional $1.9 billion tied to achieving specific development, regulatory, and commercial milestones. PTC Therapeutics’ therapy, known as PTC518, is an oral medication designed to reduce the production of the mutant protein linked to the genetic mutation responsible for the disease. This mutant protein is believed to contribute to neuronal death, driving disease progression. In June, interim data from a Phase 2 trial indicated that PTC518 successfully lowered levels of the mutant protein in both blood and cerebrospinal fluid.
References
Further reading
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External links
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Biotechnology
Pharmaceutical companies based in New Jersey
Companies based in Middlesex County, New Jersey
South Plainfield, New Jersey
Companies listed on the Nasdaq
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