Rare disease patients across Spain don’t have the same access to treatments

Access to quick and accurate diagnosis and affordable drugs in Spain varies across the regions and depending on patients’ economic status. 

Ignacio Muela, 63, has suffered from Leber Hereditary Optic Neuropathy – a rare hereditary disease that causes a sudden loss of vision – since the age of 22.  Those who suffer from this pathology usually have less than 10% vision, which is officially classified as blindness.

In Spain there are only 104 officially diagnosed cases of this disease, which has a prevalence of approximately 1 in 45,000 people, Muela, president of the Asociación de Atrofia del Nervio Óptico de Léber (ASANOL), told Euractiv’s partner EFE in an interview.

“At the moment, we have enormous difficulties in gaining access to a specific drug, Raxone, a potent antioxidant approved since 2015 by the European Medicines Agency (EMA) and by the Spanish Medicines Agency (AEM), but due to its high price and, according to the Ministry of Health, its low reliability, it is not financed by the Spanish public health system,” Muela said.

Unfortunately, this is not a unique case – of the 148 orphan medicines authorised in Europe, only 52% are currently accessible in Spain, Juan Carrión, president of the Spanish Federation of Rare Diseases (FEDER), told Euractiv’s partner EFE in an interview.

He said the situation was similar in other EU countries, as well as across Spanish regions.

“All of this has an impact on the expectations and life plans of both the patient and their family,” the FEDER president stressed.

Spanish rare disease patients have to wait on average over four years for a diagnosis, and once it is finally done, access to treatments is hampered. 

“Diagnosis is the gateway to treatment. Therefore, it is necessary that once a diagnosis is made, access to available medicines and non-pharmacological therapies is made available,” Carrión pointed out.

He stressed the importance of ensuring quick access to treatments, given that the authorisation of a drug in Europe does not always translate to quick and affordable access in the member states.

“Although the authorisation of an orphan medicine is granted by the European Union [EMA], decisions on pricing and reimbursement are made at the national level, resulting in different prices in the member states,” Carrión said.

Additionally, as a result of the authorisation and marketing process in Spain, “it usually takes almost three years for medicines to reach families in Spain after their approval in the EU”.

Addressing national policies

Among the main challenges in terms of health policy for boosting patient access to gene therapies, FEDER pointed to the public funding system.

“One of the main problems we have identified is that, in recent years, many ‘express resolutions of non-funding’ [resoluciones expresas de no financiación] are issued by the Ministry of Health, which is usually the point at which many of the pricing processes for medicines with a high economic impact end,” Carrión warned.

In Carrion’s view, these resolutions are a major stumbling block to achieving the goal of improving access to gene therapies.

Regarding Spain’s position in terms of access to therapies for rare diseases at the EU level, Carrión recalled the different realities – and sometimes multiple speeds – that exist not only in Europe but also in Spain’s regions.

In Spain, a large part of the competencies in health policy is transferred by the central government to the 17 Autonomous Communities, which often leads to inequalities.

“In addition to the different realities of each European country, in Spain there is the added challenge that each Autonomous Community has a different policy on access to treatment (…) and the consequence is that access [to drugs and therapies] is conditioned by the postcode of the families who need them,” Carrión said.

“This is particularly evident in access to medicines in special situations. Equal access to medicines is also conditioned by territory, even by hospitals and specialists.”

Patients searching for alternatives

The long waiting times for access to drugs and treatments often lead patients’ families to opt for urgent measures.

“While families are waiting, the disease progresses and worsens […]. Families cannot wait, so many are forced to take legal action to access treatment. We see this through our direct care services,” Carrión warned.

The alternatives, he said, include accessing medicines abroad, using off-label or even pharmacy master formulas [fórmulas magistrales], “which creates inequalities between some patients and others depending on where they live.” 

[Edited by Zoran Radosavljevic]

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