The Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (Aelmhu) has called for the need to advance toward a regulatory framework that takes into account the particularities of these treatments and facilitates patients’ access to innovation. This was pointed out by its president, Beatriz Perales, during the opening of the eighth edition of the awards of the association, a particularly significant event because it coincides with the organization’s 15 years of activity.
“Our priority is to advance toward a regulatory framework and evaluation and financing procedures that recognize the particularities of orphan and ultra-orphan medicines,” Perales said, who defended the application of the principle of regulatory proportionality to adjust the requirements to the characteristics of these treatments.
The president of Aelmhu recalled that the development of new therapeutic options requires years of research and investment and underscored the importance of ensuring that that effort translates into real opportunities for people living with rare diseases. “Researching and developing new therapeutic options is essential. Ensuring that they reach those who need them is the goal that gives meaning to this effort,” she noted.
The award for the best care project on rare diseases went to ‘ACROFAST: a new personalized medicine care model for patients with acromegaly’, from the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)
Dr. Carmen Ayuso García has been recognized with the award for the best research professional career for her decades-long contribution to knowledge of rare diseases, both from genetic research and from the coordination of national and international projects.
The prize for the best outreach and/or awareness project on rare diseases went to the campaign ‘El Viaje de Nica’, an initiative that seeks to raise awareness of the consequences of diagnostic delay and promote equitable access to advanced genomic diagnosis.
In the category of best communication work, outreach and/or awareness on rare diseases, the award went to nurse Pedro Soriano, for his work in health outreach through digital media and social networks.
Finally, the Honorary Award, granted by the companies associated with AELMHU, has gone to Red ÚNICAS, driven by the Interterritorial Council of the National Health System, in recognition of its contribution to the development of a model of care for people with rare diseases based on coordination among 30 reference centers, health professionals, researchers, and patient associations.
The anniversary celebration has also served to review the evolution of the association since its creation, when three companies decided to join their efforts to give visibility to rare diseases and promote research and the development of treatments. Fifteen years later, Aelmhu has 29 associated companies, an evolution that, according to Perales, has expanded its capacity for dialogue, analysis, and collaboration.
The president of Aelmhu has thanked the involvement of the associated companies, the working groups, the board of directors, and the technical team, as well as the work of the people who have contributed to the growth of the organization. She has also recognized the work of the awards jury, whose task is becoming increasingly complex because of the increase in the number of nominations and the quality of the projects submitted.
Access to treatments, on the political agenda
Perales has highlighted that, during the last year, Aelmhu has strengthened dialogue with the health administrations and representatives of the legislative sphere, in addition to participating in the main regulatory debates and in initiatives aimed at promoting innovation and improving access to treatments.
In this context, she has thanked the Ministry of Health and other ministerial departments for their willingness to maintain spaces for collaboration, among them the Mixed Group of the Pharmaceutical Industry Strategy. The association considers that this dialogue is essential to address the pending challenges and to help Spain maintain its attractiveness for the arrival of companies and investments linked to the development of medicines for rare diseases.
The president has also explained that the organization has presented proposals for the next legislature with the aim of keeping these conditions among the priorities of the public agenda in view of the prospect of a new electoral cycle.
The initiative seeks to contribute to the political debate with measures that make it possible to consolidate a broad and lasting commitment to affected people. For Aelmhu, the continuity of public policies is especially important in an area in which research requires prolonged investments and patients’ needs remain high.
The association has also reinforced its work of analysis and knowledge generation through reports on the situation of orphan drugs in Spain. These works make it possible to identify progress, detect barriers, and formulate proposals to improve access to therapies.
Added to this is the presentation of an overview of employment in the specialized pharmaceutical sector in rare diseases, which highlights its contribution to the creation of qualified jobs, the attraction of talent, and industrial competitiveness.
Alliances to improve patient care
Another of the axes highlighted by Perales has been collaboration with patient associations, academic institutions, and professional organizations. The president has argued that the response to the challenges of rare diseases requires listening to all the actors involved and making use of their capabilities.
As an example, she cited the project promoted together with the Federación Española de Enfermedades Raras (Feder) to improve the transition from pediatric to adult care for people with these conditions. The initiative also has the participation of scientific societies and the Ministry of Health.
The move from pediatric to adult services constitutes a particularly delicate stage for some patients, who need to maintain continuity of care and adapt their follow-up to new clinical and personal needs. Cooperation among professionals, administrations, and patient organizations is fundamental to avoid interruptions in care.
Perales has thanked the involvement of the participating entities and has argued that these alliances must continue to be strengthened in order to offer more coordinated responses.
In addition, she has placed families at the center of the association’s objectives and has recalled that, behind every research process and every administrative decision, there are people waiting for answers.
“For them time is not a figure, they are guides, family projects and shared moments”, Perales has stated, in reference to those who live with the uncertainty of a diagnosis, seek appropriate care or wait for a therapeutic alternative.
The head of Aelmhu has insisted that the commitment of companies must translate into concrete progress for these patients and their families. The association aspires to contribute to Spain consolidating itself as a benchmark in research and innovation in rare diseases, through an environment that favors the development of new treatments and their arrival to those who need them.
“You are not alone. We will continue by your side transforming hope together into life opportunities”, Perales concluded.
Pending challenges
For her part, Raquel Yotti, commissioner of the PERTE for Frontier Health of the Ministry of Science, Innovation and Universities, has focused on the pending challenges of rare diseases, which range from the generation of scientific knowledge to the transformation of care models and greater social awareness.
“There are diseases like rare diseases that remind us of all the road we have traveled, but that, above all, remind us of all the road that remains to be traveled,” she noted. Yotti has defended the need to review care formulas that have been maintained for years in order to advance toward more precise and personalized care, supported by new technologies.
In the scientific field, she has called for maintaining research efforts in the long term and strengthening the capacity to generate knowledge about pathologies that still pose numerous unknowns. “We need more research, rigorous research and, above all, research sustained over time”, she affirmed.
The ministerial official has also underlined the importance of transferring scientific advances to society through accessible communication, capable of reaching patients and their families and of helping rare diseases occupy a priority place on the public agenda.
Yotti also highlighted the role of the different profiles that contribute to improving the lives of people with these pathologies, from researchers and health professionals to those who make them visible through communication and those who build networks of collaboration to reduce territorial inequalities. In this sense, she defended the responsibility of institutions to turn advances into lasting changes: the care received, she maintained, “should not depend on the place where each patient lives, but on the system’s capacity to offer an equitable response”.
Understanding responsibilities better
Belén Pérez, president of the Asociación Española de Genética Humana and spokesperson for the jury, has highlighted the value of the projects presented to approach realities that do not always receive sufficient attention. The initiatives of patient associations, she pointed out, make it possible to better understand their needs and the difficulties they face while they wait for a diagnosis, a treatment, or adequate care. She also wanted to convey a message of support to the candidates who were not awarded, stressing that the absence of recognition does not diminish the value of their work or the impact it has on the people they help.
“Behind every project there is someone waiting for a diagnosis, a treatment option, closer care, or a hand to help them move forward,” Pérez stated. On behalf of the jury, she congratulated the winners and encouraged all associations to continue with their initiatives, in the hope that these recognitions will help give them greater visibility, facilitate new support, and expand their reach. The president concluded by thanking the participants for their commitment and recalling that, beyond the awards, the essential thing is to accompany patients and their families.
Shared commitment
The institutional closing of the ceremony was handled by César Hernández, general director of the Common Portfolio of Services of the National Health System and Pharmacy of the Ministry of Health, who highlighted that the funding of orphan drugs and the care of rare diseases “is a social commitment that goes far beyond the availability of a medicine. It is about generating an entire structure that serves people, families, and caregivers of people with rare diseases”.
In addition, he has appealed to the shared commitment of all the agents involved in addressing these pathologies and to the importance of working from a comprehensive perspective: “We all have to be together, committed to ensuring that no one is left behind, that everyone has solutions, wherever they come from. We must feel proud to feel part of a society that leaves no one behind,” he concluded.