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Fondazione Telethon ETS

FTELE

Telethon Foundation is an Italian non-profit organization that has been supporting bio-medical research on rare and genetic diseases for more than 30 years.

Lobbying Activity

Response to Biotech Act

11 Jun 2025

Fondazione Telethon welcomes the EC’s initiative to create an enabling environment to accelerate the transition of biotech products from laboratory to the market. As the first charity holder of a marketing authorisation (MA) in the EU for a medicinal product targeting an ultra-rare disease, Fondazione Telethon suggests that the scope of this initiative is broadened also to non-profit entities engaged in the development of innovative therapies. Consider that innovation, especially in the gene therapy field, has been largely driven by research on rare and ultra-rare diseases. Therefore, specific tools to sustain development of medicinal products for rare diseases should be included. These products would benefit from schemes beyond joint HTA. Building on the joint procurement of medicinal products of common interest foreseen within the proposal of the Critical Medicine Act, Fondazione Telethon suggests introducing EU-level "innovation procurement" mechanisms to fund late-stage development of ATMPs before MA. The business case for ultra-rare disease is particularly fragile and not attractive for capital investors. Another tool would be to create social impact investment funds to support not-for-profit development of ATMPs. Such funds accept a lower rate of return on their investment and could therefore invest also in low rewarding therapies not attractive for typical Venture funds. There are very few/unique specialised treatment centers for each rare and ultra-rare disease. These centers are excellence hubs for which the patient journey must be facilitated to overcome market fragmentation. One regulatory tool is cross-border access, which is currently not facilitated and not a fully viable route due to dependency on the successful pricing and reimbursement negotiation at the national level (country of origin of the patient). These are barriers that delay, hinder, and/or pose risks to the market entry and the sustainability of innovative medicinal products. The current international context, in particular the current US political framework, offers the EU a unique opportunity to attract talents from all over the world. A bold, clear and well-funded initiative should be launched to attract talents in collaboration with these excellence hubs. This would be instrumental also to grow and keep specialized talent capable of delivering complex therapies responsibly. Supporting cross-functional education, continuous upskilling, and opportunities for professional mobility will maintain a world-class pool of innovators. Facilitate a quick and smooth implementation of regulatory sandboxes dedicated to the development of medicinal products relying on platform technologies and/or cross-reference of data packages generated by the same company/developer to accelerate the development and market access of ATMPs sharing the same mechanism of action/disease correction, and/or technological manufacturing platform and/or constitutive elements. Risk assessment-based approaches can be adopted to guarantee quality of the products and safety of the patients. This would lower costs borne by the developers during development, favouring sustainability and shifting the paradigm of ATMP development away from the current 1 disease at a time paradigm, which is not satisfactorily addressing the needs of the rare and ultra-rare patients (6000-8000 distinct diseases estimated). Consider jointly reforming the GMO Regulation and CTR 536/2014. GMO assessment should be included in the current CTA assessment under the CTR, and ethical assessment of Part II documents under the CTR should also be centralised and not conducted at the national level. The gene therapy companies would benefit from an EU harmonised single evaluation process to boost the development of gene therapy medicinal products and avoid redundancy and peculiarities in the preparation of regulatory dossiers at the national level, which are reflected in higher costs and more time-consuming processes.
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Response to EU Life sciences strategy

17 Apr 2025

Fondazione Telethon welcomes the European Commissions initiative to develop an EU Life Science Strategy that can drive scientific excellence, support patient-centred innovation, and strengthen Europes competitiveness. One of the most promising area in life science is the development of Advanced Therapy Medicinal Products, including genome editing and mRNA technologies. EU has been at the forefront of the development of such technologies with the first ex-vivo gene therapy approved worldwide by EMA in 2016. Since then, however, the EU has lost terrain and is now lagging behind US and China in the number of approved therapies, clinical trials and investments in the sector. The main causes of the loss of competitiveness are fragmented regulation and market, limited access to financing, limited availability of highly skilled workers and lack of critical mass in key infrastructures. Achieving critical mass in the EU ATMP market is indispensable for sustaining growth and attracting further investment, ensuring the sectors long-term viability. Filling this gap is crucial for several reasons but mainly to: 1. Ensure EU citizens have access to innovative treatments they need -> some therapies have been withdrawn from the EU market and others, developed in the US, will never reach the EU as the market potential is considered too low due to market fragmentation and lower prices for drugs 2. Ensure the sustainability of European Healthcare systems -> innovative therapies for more common disease will probably be marketed in the EU at relatively high prices and either the healthcare systems limit patient access to them or the overall pharmaceutical expenditures will increase significantly. If these therapies will be developed within the EU, the increase in pharmaceutical expenditures might be compensated by additional economic growth and tax revenues generated within the Union; on the contrary, the EU will be a net payer. The EU life science strategy will be crucial to determine whether the EU will become a player or a payer. Gene and cell therapy have shown great promise in treating several severe diseases, turning hope into reality for many patients. However, significant obstacles threaten their economic viability and market presence, particularly for rare diseases and especially in Europe thus necessitating innovative solutions to overcome those barriers. Despite strong evidence that gene and cell therapies (GCTs) can dramatically improve outcomes for individuals with previously untreatable genetic or acquired conditions, their economic sustainability faces numerous challenges that hinder broader development and patient access. From the perspective of developers or pharmaceutical companies, these challenges include the complexity and high costs of manufacturing and maintaining products on the market and a limited target population. From the healthcare system's viewpoint, challenges involve extremely high prices, the need for highly specialized treatment centres, and uncertainty about the long-term effectiveness and potential delayed adverse effects. These issues have already led to the market withdrawal of some highly effective GCTs for rare diseases, which were initially celebrated as groundbreaking medicines of the new millennium. Economic sustainability of GCTs can be achieved through a balanced approach, including: (1) providing substantial and lasting therapeutic benefits for most patients that exceed those of any other available treatments, thereby establishing the drug's value in terms of reducing suffering, improving quality and longevity of life, and lowering healthcare and caregiving costs; (2) ensuring a fair return on investment (ROI) for developers; (3) making therapies financially affordable for healthcare systems (payers); and (4) ensuring timely access for all patients who could benefit from these therapies.
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Meeting with Alessandra Moretti (Member of the European Parliament)

24 Jan 2024 · Rare diseases EU policies

Meeting with Brando Benifei (Member of the European Parliament)

17 Jan 2024 · Discussion on initiatives on rare diseases issues

Response to Evaluation and revision of the general pharmaceutical legislation

8 Nov 2023

Fondazione Telethon (Italy) is an Italian non-profit organization that has been supporting bio-medical research on rare and genetic diseases for more than 30 years. Since 2023 it has become the first not-for profit marketing authorization holder of an ATMP for a ultra-rare disease in the EU. Fondazione Telethon therefore welcomes the opportunity to comment on the EU Commissions proposal on the Revision of the EU general pharmaceuticals legislation. More details are provided in the attached documents, here below a summary of the key issues. ORPHAN MEDICINAL PRODUCTS ADDRESSING A HIGH UNMET MEDICAL NEED The current set of incentives for products addressing high unmet medical need are not sufficient to appropriately stimulate private investments in very ultra-rare diseases. We therefore propose to consider: - transferable priority review vouchers or similar prizes should be introduced for medicines addressing high UMNs. - joint procurement at EU level and EU-wide compassionate use programs to reduce the time to market of centrally approved products (limited to ultra-rare diseases). - where no business case is possible (e.g. for therapies approved to treat exclusively one of the rarest conditions) SMEs, academic and not-for-profit entities should be granted post marketing regulatory fees waivers/reductions for these products. EARLY ACCESS Early access to unapproved drugs might be lifesaving in the many cases of rare diseases where there are no other therapeutic options available. Currently early access programs are managed at the level of member states creating great disparities in access between countries, with delays in access that can sum-up to years. In the case of orphan medicinal products addressing a high unmet medical need we suggest that either an EU-wide early access program should be launched, or patients become entitled to access the treatment approved for early access in another country on the basis of their right to cross-border healthcare (under the directive 2011/24/EU or the regulations 883/04 and 987/09). In addition to the above, we support the recommendations for further support in the repurposing of drugs that might prove beneficial to patients with rare and ultra-rare diseases. EUROPEAN MEDICINES AGENCY STRUCTURE Whilst we recognize the potential need to simplify the EU regulatory authority structure and processes, we are concerned with the proposal to reorganize the existing CAT, COMP, PDCO and others into working groups rather than committees as this may lead to a decrease in specific expertise involved in the regulatory decision-making processes. This is particularly a concern for advanced therapies developed for rare pediatric diseases where the specific expertise across all of these committees is required and without decision making authority, the nuanced risk-benefit evaluation or patient benefit of potentially promising medicines may not be fully realized due to the increased workload of the CHMP and hence ultimately this could limit access to medicines for patients with rare and ultra-rare diseases.
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Response to Revision of EMA fees

7 Feb 2023

Fondazione Telethon (Italy) is an Italian non-profit organization that has been supporting bio-medical research on rare and genetic diseases for more than 30 years. Fondazione Telethon welcomes the opportunity to comment on the EU Commissions proposal on the revision of EMA fees. Looking ahead and considering the current trend of disinvestments by pharmaceutical companies from rare diseases (and particularly from the so called ultra-rare diseases) we believe that academic/not-for-profit developers will play an ever-increasing role in the field and will need further support in order to sustain life-saving treatments for patients of ultra-rare diseases when licensed products are returned to the research centre or divested due to lack of commercial value. The current proposal of the European Commission not only does not increase the incentives for academic/not-for-profit developers, but it does not even confirm the existing fee reductions. We therefore ask the European Commission, the EU Parliament and the Council to: 1. Grant to the Academic or Academic Sector (as per current definition in EMA/135645/2020) the same fee reduction already foreseen for SMEs. Even understanding the reasons why SMEs are entitled to such a favourable treatment, we cannot understand why not-for-profit developers should pay more than for-profit developers (even if SMEs). 2. Therapies approved to treat exclusively ultra-rare conditions should have access to special fee waivers during the development phase and substantial fee reductions after marketing authorization to encourage the products to be sustained for these conditions despite the likely low volume of patients treated per year and associated commercial valuation. For those products, the relative weight of post marketing regulatory fees (annual fees and variations) could become prohibitive of the development or maintenance of such products. A more detailed explanatory note is provided as an annex.
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