Preparing Europe for a new generation of innovative therapies

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 there are significant unmet medical needs.

Gene therapies are giving hope to patients with ultra-rare diseases. Unlike some drugs that treat the symptoms of a disease, gene therapy targets the root cause, with the potential to transform a disease with a one-time or short-term treatment.(1) However, more work needs to be done to ensure that patients can benefit from these new treatments and to ensure an environment where R&D continues to evolve and thrive.

By working with biopharmaceutical companies, regulators, payers, HTA bodies and policy makers, we have the opportunity to open up new avenues so that patients, caregivers and healthcare systems can take full advantage 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.

Accelerating the diagnosis of rare diseases through innovative therapies

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

In Europe, an example of good 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 vary considerably across Europe; for example, in some countries, screening is only done for 1 condition.(6) In the United States, for comparison, it is recommended that babies be screened for 34 primary and 26 secondary conditions.(7 )

Recalibrate market access processes

Regulatory and HTA frameworks have been put in place for the well-known therapy model, where treatment is administered and paid for over a lifetime and often, to a large number of patients. Gene therapies do not fit this model. Usually given once, for a value that spans a lifetime. Moreover, these innovative therapies are genetically personalized and, for such rare diseases, there may only be a handful of affected patients in a country. The overall impact on the national health budget may therefore be minimal. An evaluation should reflect this small number of patients to encourage innovation. It is encouraging to see that in the UK, NICE (National Institute for Health and Care Excellence) will work to improve the way it takes real patient evidence into account when evaluating new treatments. (8) This is extremely important in rare diseases where large clinical trials are not possible.

Harmonize and simplify the collection of real-world evidence

More emphasis needs to be placed on data gathered through close follow-up of patients in disease and product registries that accumulate vital data on long-term safety and efficacy. In
In addition, the process of collecting this data needs to be more consistent, coordinated and efficient.(9)

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

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

Many new and innovative treatments, including gene therapies, are being developed for patients with rare diseases, giving hope to patients, many of whom are children with debilitating and life-limiting diseases who don’t 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.
lifetime. We need to work together to improve regulation and access
across Europe to ensure that these transformative and innovative therapies reach patients while continuing to advance medical science in Europe.


1) Goswami R, et al. Gene therapy is emerging from a vicious circle. Front oncol. 2019;9:297.
2) Marwaha S, et al. A guide to the diagnosis of 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 health agony training. 2019;141-142:18-23.
4) Loeber, JG. Neonatal screening in Europe revisited: An ISNS perspective on the 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 newborn screening initiatives. Neonatal screen Int J. 2018;4(4):32.
7) National Conference of State Legislators (2017). National newborn health screening policies. Available at: (accessed May 2022).
8) NICE (2022) NICE Releases New Combined Methods and Processes Handbook and Subject Selection Handbook 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. About. Res. Public Health 2018, 15(8):1644.
10) European Commission. Questions and Answers – EU Health: European Health Data Area (EHDS). Available at: (accessed May 2022).
11) European Medicines Agency. The opening of the DARWIN EU® Coordination Center advances the integration of real-world evidence into drug evaluation in the EU. Available at: (accessed May 2022).
12) Bates M. Advances in gene therapy offer hope for rare diseases. 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’.

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