Castilla y León is the reference community in this type of pathology, as Burgos is home to the headquarters of the State Reference Centre for the care of people with Rare Diseases and their families (CREER).
During the 7th AELMHU Breakfast, the importance of creating specific budget lines for rare pathologies was also stressed.
The need for equal access to orphan and ultra-orphan drugs was one of the main claims made during the 7th AELMHU Breakfast, organised by the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU) and the Spanish Federation for Rare Diseases (FEDER).
The event, held this morning at Casa Revilla in Valladolid, was attended by representatives from the medical and healthcare sector, as well as from the public administration, such as the former Minister of Health of the Junta de Castilla y León, Francisco Javier Álvarez Guisasola, and patient associations in the region. At the Breakfast, the need to ensure equity in the diagnosis, treatment and financing of orphan and ultra-orphan drugs was emphasised. There are currently significant differences in access to drugs between Spanish regions and even between hospitals, because 95% of health spending falls on regional institutions.
Luis Cruz, President of AELMHU, pointed out that "each community should have specific budgets for the treatment of rare diseases. This would give more importance to this type of pathology and would avoid the significant differences that exist between health centres.
According to data from the Castilla y León Regional Ministry of Health, more than 150,000 people in Castilla y León suffer from one of these pathologies. The most worrying thing, however, is that only 6% of patients have a specific treatment. The scientific body estimates that there are more than 7,500 types of rare diseases in the world, in most cases undiagnosed, without specific treatment and with only the resource of palliative medicine.
For this reason, it has also demanded that the new products authorised in Europe reach Spanish patients as soon as possible. In fact, of the 89 medicines authorised at continental level with orphan drug designation, 75 are approved by the Spanish Medicines Agency and of these, only 50 are currently marketed in Spain. The cause is usually to be found in delays in the funding and pricing decision process by the Ministry of Health, which takes an average of 16 months to complete approval.
Santiago de la Riva Compadre, Vice-President of the FEDER Foundation, member of FEDER's Board of Directors and FEDER's representative in the Rare Diseases Registry of Castilla y León, has called for "aid to subsidise clinical trials with designated orphan drugs for second use, in order to commercialise their use and improve pathologies in the short term". According to her, these drugs would lead to greater equality and equity among those affected by rare diseases and would also serve to improve their daily lives.
De la Riva also regretted that "currently only 10% of rare diseases have research in progress".
For his part, Ignacio Burgos, coordinator of the Rare Diseases and Orphan Drugs Working Groups of the Advisory Council on Health, presented the practical recommendations presented during the Global Week on Rare Diseases and Orphan Drugs, held recently in Mexico. For Burgos, "it is necessary to implement a global strategy as it is a challenge in all areas and its approach has a complexity, difficulty and cost that no other group of diseases has". He also added that "in our country, 5,000 children die every year, which means an average of 15 patients a day, as a result of rare diseases". He also stressed that specific groups on rare diseases should be created within scientific societies.
Castilla y León, nerve centre of Rare Diseases
Castilla y León is the Spanish community of reference in this type of pathology, as Burgos is home to the headquarters of the State Reference Centre for the care of people with Rare Diseases and their families (CREER).
Aitor Aparicio, managing director of CREER, highlighted: "the work done by the Institution as an advanced centre in the promotion, development and dissemination of knowledge, innovative experiences and methods of care for people with rare or infrequent diseases, and highly specialised in support services for families and carers. The Centre maintains different care and support programmes for patients, families and carers from a social and health care approach and the development of personal autonomy, with the aim of improving their quality of life and social inclusion".
CREER has also been a turning point in the knowledge of these rare diseases. Aparicio has made a very positive assessment of the six years of life of the Centre: "from 2009 to 2015, more than 150 meetings have been organised with associations from all over Spain, where a total of 9,402 people have participated. Affected people representing more than 230 different rare diseases have passed through the Centre".
One of CREER's objectives is to disseminate and raise awareness in educational centres about the relevance of rare diseases and, in this regard, between 2013 and 2015, more than 800 schoolchildren in Burgos received information about these pathologies.
CREER serves, in its different programmes, around 3,000 users per year, patients with rare diseases and their families. In addition, it has maintained its specialised staff and budget over the last three years.
Conclusions: The importance of equity
Among the conclusions of this meeting, the need to reduce and shorten administrative procedures and to standardise procedures for access to the treatments needed to cope with the disease was highlighted. The indirect social costs generated by rare diseases were also highlighted, such as absences and loss of work for the patient and their immediate family, depression in the family environment and adaptation of their lives to this new situation. In short, the speakers consider it necessary for society to recognise the rights of people suffering from a rare disease, putting their needs on an equal footing with those of other patients suffering from other ailments, and to this end, it is necessary to combine the efforts and capacities of the healthcare, pharmaceutical, administrative and social spheres.
AELMHU breakfasts
Since 2012, AELMHU has been organising regular meetings with the presence of the main patient associations and political and health entities, with the aim of raising awareness of rare and ultra-rare diseases, promoting the development of drugs to treat them in recognition of their therapeutic and social value, and advocating for rapid and equitable access to both diagnosis and treatment.
AELMHU breakfasts have already taken place in different Spanish cities, such as Madrid, Barcelona, Valencia, Seville, Bilbao and Santiago de Compostela.
The seventh edition took place in Valladolid and was attended by Francisco Fernández, journalist and director of Correo Farmacéutico and Diario Médico. In addition, Ignacio Burgos, coordinator of the Rare Diseases and Orphan Drugs Working Groups of the Health Advisory Council; Aitor Aparicio, managing director of CREER; Santiago de la Riva Compadre, vice-president of the FEDER Foundation, member of the FEDER Board of Directors and FEDER representative in the Rare Diseases Registry of Castilla y León; and Luis Cruz, president of AELMHU, also participated in the event.
