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 the lives of patients

PTC Therapeutics is a global biopharmaceutical company committed to the development of 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 treatment course.(1) However, there is work to do to ensure patients can benefit from these novel treatments and to ensure an environment where R&D continues to evolve and flourish.

Working together with biopharmaceutical companies, regulators, payers, HTA bodies and policymakers, we have an opportunity to forge new ground so patients, caregivers and health systems can realize the full benefit of medical innovation. We are at the frontier of an exciting therapy 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 supporting increased access to genetic testing.(2) We often hear of families who have visited an endless number of specialists to find out why their child is not meeting expected developmental milestones. That is why we provide support across the entire patient journey, from disease awareness, physician education and early diagnosis initiatives. The inclusion of more diseases in newborn screening panels is a potential solution and an important component of any national rare disease action plan, as disease outcomes are often better if patients are treated early.(3) Newborn screening is mandated by law in some countries, but not all.(4)

In Europe, an example of best practice can be found in Italy, where diagnostic methods have been centralized in screening centres. Italy’s mandatory national program includes 40 disorders 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 only performed for 1 condition.(6) In the US, as a comparator, it is recommended that babies are screened for 34 core conditions and 26 secondary conditions.(7)

Recalibrate market access processes

Regulatory and HTA frameworks were set up for the well-known therapy model, where treatment is given and paid for across a lifetime and often, to large numbers of patients. Gene therapies don’t fit this model. Typically given only once, for a value that stretches over a lifetime. What’s more, these innovative therapies are genetically personalized, and for conditions that are so rare, there may only be a handful of affected patients in a country. The overall impact on the national healthcare budget may therefore be minimal. An evaluation must reflect these small patient numbers to encourage innovation. It is encouraging to see that in the UK NICE (National Institute for Health and Care Excellence), will work to improve how it considers real-world evidence from patients when evaluating new treatments.(8) This is incredibly important in rare diseases where large clinical trials are not possible.

Harmonize and simplify the collection of real-world evidence

There needs to be more significance given to data collected through close patient follow-up in disease and product registries that build up vital long-term safety and efficacy data. In
addition, the process for gathering this data needs to be more consistent, coordinated and efficient.(9)

With very small patient populations, real-world evidence that is gathered is important in order to understand the long-term benefit of the treatment and the impact on the patient’s
quality of life.

The collaboration of biopharmaceutical companies, regulators, payers, HTA bodies and policymakers is important to design clear and uniform guidance so that real-world data is
inter-changeable, interoperable and consistently accepted across Europe.
Hopefully, this is an area the newly launched proposal from the European Commission on European Health Data Space can improve, in addition to the EMA’s DARWIN project which
will provide a network of real-world evidence 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 for patients, many of whom are children with disabling and life-limiting conditions and who currently have few or no treatment options.(12) The potentially long-lasting effects of gene therapies will greatly reduce – and in some cases eliminate – the need for ongoing treatments over a patient’s
lifetime. We need to work together to improve the regulatory and access
landscape 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 Cycle. Front Oncol. 2019;9:297.
2) Marwaha S, et al. A guide for the diagnosis of rare and undiagnosed disease: 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. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State 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. European Union Should Actively Stimulate and Harmonise Neonatal Screening Initiatives. Int J Neo-natal Screen. 2018;4(4): 32.
7) National Conference of State Legislators (2017). State Newborn Health Screening Policies. Available at: (Accessed May 2022).
8) NICE (2022) NICE publishes new combined methods and processes manual and topic selection manual for its health technology evaluation programmes Available at: (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. Initiation of DARWIN EU® Coordination Centre advances integration of real-world evidence into assessment of medicines in the EU. Available at: (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&D – Research and Development, HTA – Health Technology Assessment, EMA – European Medicines Agency, EU – Date of Preparation: September 2022 ‘PTC/Corp/UK/22/0037’.