Spain has more than 1,050 clinical trials for rare diseases underway and nine out of ten are promoted by the pharmaceutical industry.
This research momentum means that one in three new medicines approved by Europe in 2024 was classified as an orphan drug.
There are still many untreated rare diseases, so patients are calling for more public investment in research and incentives to grow innovation from the private sector.
Farmaindustria joins the ‘people’ campaign, promoted by Feder for World Rare Disease Day, with the aim of making visible the reality of more than 3 million people and their families in our country.
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Together with an accurate and early diagnosis, the arrival of an innovative drug is the main hope for people suffering from one of the more than 6,400 rare diseases identified in Europe.
Spain is among the world’s leading countries in clinical research on these pathologies, with 1,052 clinical trials under development in the last 5 years. In 2024 alone, 207 were launched, of which 92% (190) were driven by pharmaceutical companies, according to the Spanish Clinical Trials Register (REEC).
The results of this drive for innovation in rare diseases have been reflected in the approvals of new medicines by the European Medicines Agency (EMA) last year, when one out of every three new active ingredients authorised was identified as an orphan drug. That is, 15 of the 46 new medicines approved in Europe in 2024 are aimed at treating rare diseases.
However, this encouraging commitment of the pharmaceutical industry to orphan drug research is not enough. Both pharmaceutical companies and the Spanish Federation for Rare Diseases (Feder) are asking national and regional governments for more investment in research and also for more incentives to continue promoting biomedical R&D in this area.
As Feder’s president, Juan Carrión, recalled last week, ‘only 20% of rare diseases are being researched. According to data from the National Statistics Institute (INE), the amount that Spain devotes to R&D&I represents 1.49% of its GDP. It is necessary to increase public investment and encourage private participation with incentives to motivate new research that will allow us to understand rare diseases and identify new treatments.
Equity in the use of biomarkers and access to new treatments
In this sense, improved knowledge of the disease, the discovery of new diagnostic biomarkers and neonatal screening are also set to be a revolution for these people in the field of early diagnosis, bearing in mind that 70% of rare diseases have a genetic component.
The pharmaceutical industry sees the need to speed up this early diagnosis and the pooling, at the level of the entire NHS, which allows access to these determinations in an agile, coordinated and equitable manner.
Furthermore, at present, most of the new orphan drugs that are authorised base their efficacy on the presence of a biomarker. Drug and biomarker follow different authorisation and funding processes, so there needs to be synchronisation so that the availability of both can be guaranteed, so that patients have the best treatment when they need it.
According to the latest Access Indicators Report (WAIT 2023), in Spain only one out of two authorised drugs for rare diseases is available in the National Health System (NHS), and the average waiting time for patients is almost two years.
These delays are not only a drama for patients, who, once the trial is completed, cannot use the drug until the funding decision is made. They also undermine Spain’s attractiveness for pharmaceutical companies to invest in clinical trials. Farmaindustria has proposed a series of measures to the Ministry of Health to correct this situation and improve access to orphan drugs, based on the need to recognise their peculiarities.
The Pharmaceutical Industry Strategy 2024-2028 can be a powerful driving force to consolidate Spain’s leadership in biomedical R&D, with special attention to basic and translational research and orphan areas, as well as to improve access times to new medicines so that patients have the best possible innovative treatments within their reach and in the shortest possible time.
In this context, we must also look at the revision of European pharmaceutical legislation, currently under discussion, to protect the achievements of the Orphan Drug Regulation, which has done so much good for the promotion of research into rare diseases and which has allowed Europe to go from 8 to 147 authorised orphan drugs in two decades.
The innovative pharmaceutical industry is strongly committed to these tasks and once again this year Farmaindustria is a partner in Feder’s annual campaign for World Rare Disease Day, which will be celebrated this Friday, 28 February. In this edition, the chosen slogan is pERsonas, which aims to make visible the reality of more than 3 million people and their families in our country. ‘Diagnosis is a labyrinth full of uncertainty. But behind every figure, behind every disease, there are people and families who need support and real solutions’, Feder reminds us.
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