2003: Targeting regulation of protein production for new medicines

Nominated by: PTC Therapeutics

Organisation in nomination: PTC Therapeutics

Diseases associated with protein disorders, such as Duchenne muscular dystrophy and spinal muscular atrophy have long been a target for the development of medicines, however the complexity of protein production, especially from faulty genes, have made it difficult to do anything other than try and manage symptoms.

In the relatively new field of RNA targeting for novel medicines, there had previously been few advances in understanding of what happens after transcription of a protein, specifically during translation, when the final protein structure is created.

In 2003, through PTC’s internally developed scientific platform, PTC discovered the first novel small molecule capable of suppressing premature termination of translation by allowing the ribosome to selectively read through a premature stop codon in mRNA created by a nonsense mutation. This ultimately enabled the translation machinery to produce full-length, functional proteins – representing a novel therapeutic modality to treat genetic diseases caused by nonsense mutations.

This discovery was the result of foundational work and research carried out since the early 1990s by Dr Stuart Peltz, a scientific leader in RNA biology in the area of post-transcriptional control processes involving mRNA turnover and translation, and founder of PTC Therapeutics.

This opened a new field of medicines that can be taken both at home and orally (by mouth), improving treatments available and their accessibility, enabling treatment outside hospitals and better quality of life for patients and caregivers. It is an excellent example of how biotech technologies have been applied to deliver targeted medicines that address the underlying cause of the disease. Examples of drugs now approved include:

Translarna™ (ataluren) is the first-ever therapy approved in EU in 2014 for treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD), a rare childhood neuromuscular disorder.  It has demonstrated that it can slow disease progression and delay loss of mobility, allowing patients to maintain independence and quality of life. It is now available in over 50 countries, and PTC is working with global reimbursement bodies to secure patient access to treatment, and that patients enrolled in clinical trials can continue to be treated.

Evrysdi™ (risdiplam) approved in 2020, is the first at-home, orally administered treatment approved in US & EU for the rare disease, spinal muscular atrophy (SMA) has demonstrated to improve achievement of developmental milestones, preserved vital functions and improved survival of patients. Evrysdi was discovered by PTC Therapeutics and developed in partnership with the SMA Foundation and Roche. It is available in 48 countries, with more than 3000 patients being treated in clinical trials, compassionate use and real-world settings.


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