The III National Conference on Advanced Therapies for Rare Diseases, organized by the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories(AELMHU), has brought together, for the third consecutive year, experts from the healthcare sector with the aim of promoting an open and constructive dialogue on advances in the treatment of rare diseases in Spain.
The event was made possible by the sponsorship of Amgen, CSL Behring, PTC Therapeutics, Ultragenyx and Vertex Pharmaceuticals, all AELMHU partners.
This conference was attended by patients, clinicians, managers, health economists and representatives of the Public Administration, among others. All of them agreed on the importance of the therapeutic and social value of advanced therapies and the need to work together to improve the approach to rare diseases. Facing the great challenges, both at European and national or regional level, concerning diagnosis, research, development, financing and access to these treatments.
Beatriz Perales, president of AELMHU, was in charge of inaugurating the event and welcoming the participants. In her speech she emphasized that "this meeting shows, once again, the firm commitment of AELMHU to work together and in collaboration, with initiatives that help to promote and encourage research into rare pathologies and the development of new therapies for them". He also stated that advanced therapies imply a paradigm shift, which represents an unquestionable advance in the treatment of numerous rare and ultra-rare diseases. For this reason, he considered that "we must take the necessary steps for the healthcare system to adapt to a scenario that is very different from the current one and we can guarantee the medicine of the future".
Regulatory engagement and advances in joint clinical evaluation
The event was also attended by Maria Jesús Lamas, Director of the Spanish Agency for Medicines and Health Products(AEMPS), who reflected on the Agency's commitment to patients and their families. Lamas stressed that the AEMPS's priority is to create a favorable regulatory environment that promotes innovation in orphan drugs and that, in this sense, they are committed to not being mere passive witnesses to innovation, but "active catalysts in the development of innovative therapies". In his speech, Lamas pointed out that, from the AEMPS, they work to maintain an accessible regulatory framework for both research groups and companies that develop drugs for rare diseases, thus ensuring that advances in this field reach patients as soon as possible.
Alejandro G. Solís, representative of the Area of Health Technology Assessment and Therapeutic Positioning Reports also from the AEMPS, explained to the attendees the advances in the process of joint clinical assessments. These evaluations allow faster and more efficient access to innovation in all the member states of the European Union, making it easier for patients to benefit from new therapies in a more equitable manner.
Roundtable discussions on diagnosis and legislation
The day was structured in two round tables with the participation of high-level speakers who shared their experiences and perspectives on the future of advanced therapies.
The first round table, entitled "Diagnosis of Rare Diseases: Neonatal Screening, Precision Medicine and Data Management", moderated by Rubén Moreno , former Secretary General of Health and Consumer Affairs, addressed key issues related to early diagnosis and personalization of treatment. Experts such as Domingo González-Lamuño, president of the Spanish Association for the Study of Inborn Errors of Metabolism(AECOM), Daniel de Vicente, member of the board of directors of FEDER and EURORDIS and president of the patient association ASMD Spain and María Luz Couce, head of the Neonatology service and director of the Diagnosis and Treatment of Congenital Metabolic Diseases Unit of the Hospital Clínico Universitario de Santiago de Compostela, highlighted the importance of neonatal screening to improve the prognosis and quality of life of patients. In addition, special emphasis was placed on the role of precision medicine and data management in the early identification of rare diseases and the optimization of treatments. The speakers agreed that collaboration between different actors is essential for further progress in this field and to ensure equitable access to the most advanced tools.
The second round table, entitled "Legislative advances and challenges in the approach and financing of Advanced Therapies for Rare Diseases", moderated by Jorge Mestre, a health economist, discussed the need to update the Plan for the Approach to Advanced Therapies in the National Health System(NHS). The speakers, Carlos Martín Saborido, director of the Health Technology Assessment Agency of the ISCIII, Nekane Murga, coordinator of Advanced Therapies of Osakidetza, José Luis Poveda, coordinator of the Working Group on Advanced Therapy Medicines of the Spanish Society of Hospital Pharmacy (SEFH),Gerardo García-Álvarez,principalinvestigatorof the project Innovation for Cutting-Edge Health: Public Procurement, Technology, Environmental Sustainability and Socioeconomic Factors and Josep Maria Guiu, director of the Medicines Pharmacy Area of the Consorci de Salut i Social de Catalunya (CSC), have pointed out that the update of this plan should go beyond CAR-Ts, focusing attention on three fundamental areas: access, evaluation and financing of advanced therapies. They also emphasized the need to establish a clear strategy to enable patients to access these innovative therapies more quickly and efficiently.
Conclusions and future prospects
The day came to an end with a few words from Marian Corral, executive director of AELMHU, who used her speech to highlight the importance of updating the Plan of Approach for Advanced Therapies, incorporating the autonomous communities, clinicians, researchers and the pharmaceutical industry in this process. He also commented that it is essential to ensure that all the actors in the healthcare system work together to improve patient access to advanced therapies, especially in the case of rare and ultra-rare diseases, which often do not have effective treatments.
The III National Conference on Advanced Therapies for Rare Diseases has highlighted the importance of working more closely together to advance the development of innovative treatments and ensure that they reach those who need them most. Advances in precision medicine, newborn screening and advanced therapies are making a significant difference in the treatment of these diseases, but there is still a long way to go to ensure universal and equitable access to these innovative treatments. Collaboration between the public, private and civil society sectors will be key to ensuring that all patients can benefit from these advances.
