Preparing Europe for a new generation of innovative therapies

Thomas Bols, Head of Government Affairs and Patient Advocacy, EMEA and APAC at PTC Therapeutics, explores how preparing Europe for a new generation of innovative therapies has the potential to transform patients’ lives

PTC Therapeutics is a global biopharmaceutical company committed to developing treatments for rare diseases where significant unmet medical needs exist.

Gene therapies are bringing hope to patients living with ultra-rare diseases. Unlike some medicines that treat the symptoms of a disease, gene therapy targets the root cause, with the potential to transform a disease with a single treatment or a short course of treatment. (1) However, there is work to be done. do to ensure that patients can benefit from these new treatments and to ensure an environment in which R&D continues to evolve and thrive.

By working together with biopharmaceutical companies, regulators, taxpayers, HTA bodies and policy makers, we have the opportunity to break new ground so that patients, healthcare professionals and healthcare systems can realize the full benefits of medical innovation. We are at the frontier of an exciting therapeutic pipeline.

To ensure success, we will need to work together to identify solutions in three key areas.

Speed ​​up the diagnosis of rare diseases through innovative therapies

Getting the right diagnosis for rare diseases can be notoriously difficult. Including support for greater access to genetic testing. (2) We often hear of families who have visited countless numbers of specialists to find out why their child is not achieving their expected developmental milestones. That’s why we provide support throughout the patient journey, from disease awareness, to physician education and early diagnosis initiatives. The inclusion of multiple diseases in newborn screening panels is a potential solution and an important component of any national action plan for rare diseases, as disease outcomes are often better if patients are treated early. (3) Newborn screening is required by law in some countries, but not only. (4)

In Europe, an example of best practice can be found in Italy, where diagnostic methods have been centralized in screening centers. Italy’s mandatory national program includes 40 diseases with 100% coverage. (5) However, the availability of newborn screening and the number of conditions screened varies considerably across Europe; for example, in some countries, screening is done for only 1 condition. (6) In the United States, as a comparator, it is recommended that children be screened for 34 major and 26 secondary conditions. (7)

Recalibrate market access processes

Regulatory and HTA frameworks have been established for the well-known therapeutic model, in which treatment is administered and paid for throughout life and, often, to large numbers of patients. Gene therapies do not fit this model. Typically given once, for a lifetime value. Furthermore, these innovative therapies are genetically personalized and, for such rare conditions, there may be only a handful of patients affected in a country. The overall impact on the national health budget can therefore be minimal. An evaluation must reflect these small numbers of patients to encourage innovation. It is encouraging to see that in the UK the National Institute for Health and Care Excellence (NICE) will work to improve the way it views real-world evidence from patients when evaluating new treatments. (8) This is incredibly important in disease. rare in which large clinical trials are not possible.

Harmonize and simplify the collection of real-world evidence

More emphasis needs to be placed on data collected through careful patient follow-up in disease and product registries that accumulate vital long-term safety and efficacy data. In
furthermore, the process of collecting this data needs to be more coherent, coordinated and efficient. (9)

With very small patient populations, the real-world evidence that is collected is important for understanding the long-term benefit of treatment and the impact on the patient.
life quality.

The collaboration of biopharmaceutical companies, regulators, payers, HTA bodies and policy makers is important to design clear and uniform guidelines so that real-world data is
interchangeable, interoperable and consistently accepted across Europe.
It is hoped that this is an area that the European Commission’s recently launched proposal on the European Health Data Space can improve, in addition to the EMA’s DARWIN project which
will provide a real-world evidence network across the EU. (10,11)

There are many new and innovative treatments, including gene therapies, that are being developed for patients living with rare diseases, providing hope to patients, many of whom are children with disabling and life-limiting conditions and who currently have few or no treatment options. (12) The potentially lasting effects of gene therapies will greatly reduce – and in some cases eliminate – the need for ongoing treatments on the patient
lifetime. We must work together to improve regulation and access
panorama across Europe to ensure that these transformative and innovative therapies reach patients and at the same time continue to advance medical science in Europe.


1) Goswami R, et al .. Gene therapy leaves a vicious circle. Oncol forehead. 2019; 9: 297.
2) Marwaha S, et al A guide to diagnosing rare and undiagnosed diseases: beyond the exome. Genome Med. 2022; 14 (1): 23.
3) Kohlschütter A & van den Bussche H. [Early diagnosis of a rare disease in children through better communica-tion between parents, physicians and academic centers] Z Evid Fortbild Qual Gesundhwes. 2019; 141-142: 18-23.
4) Loeber, JG. Newborn Screening in Europe Revisited: An ISNS Perspective on Current Status and Developments Since 2010. Int J Neonatal Screen. 2021; 7 (1): 15.
5) Sikonja J, et al .. Towards achieving equity and innovation in newborn screening across Europe. int. J. Neonatal Screen. 2022, 8 (2): 31.
6) Loeber JG. The European Union should actively stimulate and harmonize neonatal screening initiatives. Int J Neonatal screen. 2018; 4 (4): 32.
7) National Conference of State Legislators (2017). State policies of infant health screening. Available at: (accessed May 2022).
8) NICE (2022) NICE publishes a new combination manual of methods and processes and topic selection manual for its health technology assessment programs Available at: programs (accessed May 2022).
9) Kodra Y et al Recommendations for improving the quality of rare disease registries. int. J.Environ. res. Public Health 2018, 15 (8): 1644.
10) European Commission. Questions and Answers – EU Health: European Health Data Space (EHDS). Available at: (accessed May 2022).
11) European Medicines Agency. The launch of the DARWIN EU® coordination center advances the integration of real-world evidence into drug evaluation in the EU. Available to: (accessed May 2022).
12) Bates M. Advances in gene therapy offer hope for rare disorders. IEEE Pulse 2019; 10 (6): 9-12. EMEA – Europe, Middle East and Africa, APAC – Asia Pacific, R&S – Research and Development, HTA – Health Technology Assessment, EMA – European Medicines Agency, EU – Preparation date: September 2022 ‘PTC / Corp / UK / 22/0037 ‘.

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