According to Marian Corral, executive director of the Spanish Association of Orphan and Ultra Orphan Medicines Laboratories (AELMHU), there is a need to "rethink the current system of evaluation and funding of orphan drugs" through "early access models for innovations that meet unmet needs for patients who have no other treatment options".
This is what Corral said on 26 November during the virtual conference "A Roadmap for Rare Diseases: consensus proposals for healthcare", in which various organisations from the sector, experts and political representatives met to discuss the challenges caused by the COVID-19 pandemic in the field of rare diseases.
The event served as an event to present the Rare Disease Roadmap, the result of a multi-stakeholder dialogue initiative in which a broad group of experts, including patients and health professionals, have analysed and collected concrete proposals for action to drive substantial changes in rare disease policies. The document looks at everything from diagnosis to research, healthcare and treatment availability.
As the conference highlighted, one of the biggest challenges is the rapid availability of treatments. According to José Luis Poveda, coordinator of the Orphar-SEFH Group of the Spanish Society of Hospital Pharmacy, almost a third of patients claim to have no access or difficult access to them, mainly due to the long time it takes for them to become available in Spain after approval by the European Medicines Agency and the unequal coverage between regions. In addition, funding and evaluation processes do not usually take into account the particular challenges presented by orphan drugs, such as the difficulty of obtaining sufficient clinical data, given the low prevalence of the pathologies.
In addition to the problems of evaluation and pricing, there is a lack of incentives and synergies to institutionalise knowledge and research on rare diseases, which is reflected in the fact that, despite the high number of trials in our country, collaboration between centres is difficult. Luis Aldamiz, from the Instituto de Investigación Sanitaria de Santiago de Compostela, pointed out that this is due to the fact that "there is no proper integration of research activity in the professional career, nor are sufficient resources allocated". For this reason, the experts are in favour of promoting a State Research Plan to guide and coordinate actions. The Rare Disease Roadmap initiative has also received the express support of various political forces. This is reflected in the joint foreword to the document, in which health spokespersons such as Antonio Alarcó, Elvira Velasco and Juan Antonio Callejas (Popular Party), Guillermo Díaz (Ciudadanos), Esther Carmona, Ana Prieto and Carmen Andrés (Socialist Party), as well as Rosa Romero and Julio Navalpotro, president and vice-president of the Health Commission of the Congress of Deputies, recognise that "there are still many challenges to be addressed" starting with an "update of the Strategy on Rare Diseases" that puts these pathologies "at the centre of health reconstruction policies".
