22% of clinical trials underway in Spain seek new treatments for rare diseases
Research into new drugs for rare diseases has multiplied in recent years.
In Spain, industry drives 90% of clinical trials for this type of disease.
One out of every three drugs with a new active ingredient authorised in Europe in 2023 was an orphan drug
On World Rare Disease Day, celebrated on 29 February, we also recall the importance of early diagnosis and rapid and equitable access to drugs for all patients.
Farmaindustria.es
In recent years, research into new medicines for rare diseases has grown exponentially, from 21 in 2015 to 182 in 2023, according to data from the Spanish Clinical Trials Register (REEC). These are very positive data showing that last year one in five trials (22%) were already testing orphan drugs.
These figures indicate the industry’s commitment to these pathologies, which, however, is far from conformist. On World Rare Disease Day, celebrated on 29 February, Farmaindustria recalls the importance of continuing to make progress in research, in early diagnosis and in the availability of these medicines, quickly and equitably for all patients.
In recent years, moreover, the percentage of early-stage research has risen to 51%, those that provide an earlier opportunity for patients to gain access to these new drugs under investigation. “This is a great advantage, especially for patients suffering from rare diseases, because these are cases in which there is often no therapeutic alternative,” explains Farmaindustria’s Director of Clinical and Translational Research, Amelia Martín Uranga. It is estimated that only 5% of rare diseases have a treatment available.
One of the major rare disease research projects is the Únicas Network. This is a large public-private partnership driven by the Hospital Sant Joan de Deu in collaboration with 25 other Spanish centres, European hospitals, research centres, pharmaceutical companies, health technology companies and associative entities, with the aim of advancing research into rare and complex pathologies.
All this research is bearing fruit and this is reflected in the approvals of the European Medicines Agency, which in its latest report states that of the 34 innovative medicines (with a new active ingredient) authorised in 2023, 35% (12) are intended to treat rare diseases.
The challenge: improving access
While Spain has become a world leader in clinical trials, this success does not always translate into new drugs reaching patients. In the case of rare diseases, the importance of accessing treatments quickly can be even more critical, when these diseases are very life-limiting or life-threatening. According to data presented by the Spanish Society of Neurology on the occasion of the World Day, 65% of rare diseases are severe and disabling, and in almost half of the cases they affect the patient’s vital prognosis. This organisation also recalls that some three million people in Spain suffer from a rare disease and that the average time to diagnosis is five years.
This is why Farmaindustria has presented a proposal for a specific procedure to accelerate the availability of orphan drugs once they are approved in Europe.
“Almost 80% of the countries in Europe, Canada and New Zealand that were analysed in a recent European report have different procedures for rare diseases while in Spain they are still in demand. Recognising that these medicines have peculiarities in their research and development and that, by definition, they are indicated for the treatment of a small number of patients for whom no treatment is usually available is fundamental. That is why last year we presented a proposal to speed up this process so that Spanish patients do not have to wait an average of 786 days, i.e. more than two years, to access orphan drugs authorised in Europe,” says Farmaindustria’s Director of Access, Isabel Pineros.
In addition to the procedure, it is important to eliminate the perception of uncertainty surrounding these pathologies, and to this end it is essential to develop appropriate platforms to collect, manage information and, above all, resolve this uncertainty in order to make progress in the improvement of these diseases. Encouraging the participation of all the agents involved: patients, clinicians, administration and industry is fundamental in all of this.
Progress in the three pillars – research, early diagnosis and availability of treatments – is the basis of the campaign that the Spanish Federation for Rare Diseases (Feder) has launched this 2024 on the occasion of World Rare Disease Day. They propose to act on three levels, as explained by its president, Juan Carrión: “Firstly, research to understand its origin. Secondly, in diagnostic programmes that allow early identification of the disease and, finally, with access to pharmacological treatments and therapies that prevent the disease from worsening, favour its improvement or even cure it.
