20% of clinical trials in Spain are already focused on rare diseases

The European Regulation on Orphan Medicines of the year 2000 has been the key in this research launch

A quarter of the annual approvals of new drugs are already for rare diseases, but the challenge remains enormous: 95% of these diseases still have no treatment

This Sunday, February 28, is celebrated the World Day of Rare Diseases

In Spain there are currently about 700 clinical trials (20% of the total) of potential drugs against rare or infrequent diseases, which affect less than one in every two thousand people. The fact that one in five trials targets so-called orphan drugs reflects the growth that has occurred in recent years in this area. Specifically, this take-off in rare disease research has been possible thanks to the approval in 2000 of the European Regulation on orphan drugs, a regulation aimed at generating, through incentives, a framework that encourages private investment in the research on these treatments and that has meant that only in the last decade research projects in this area have grown by 88%.

The results have not been delayed. Thus, since 2000, the number of orphan drugs approved in Europe has multiplied by 23, going from just 8 drugs existing then to 184 today. In 2020 alone, the European Medicines Agency (EMA) approved 18 new specific medicines for rare diseases, one in four.


However, there is still a long way to go. Less than 5% of these diseases have treatment, so the vast majority of people who suffer from a rare disease – more than 30 million in Europe and 3 million in Spain – still do not have a drug to treat.

Promotion of legislation

As Iciar Sanz de Madrid, director of the International Department of Pharmaindustry, points out, maintaining and promoting this type of research incentive is key for R&D in rare diseases, whose complexity is greater than that of other diseases. “Developing a drug is a process that in itself takes more than 10 years, an investment of more than 2,500 million euros and, above all, a high risk, since the vast majority of potential drugs decay throughout the process . In the case of orphans this is even more complicated. The greater scientific ignorance about these diseases and the small number of patients to be able to carry out the trials make the research more difficult and risky. For this reason, having a regulatory framework that stimulates research through incentives is critical in this field ”, she points out.

The entry into force of the Orphan Drug Regulation in the European Union has not only boosted private investment in research, with the creation of 220 companies responsible for 51% of the orphan drugs that have been approved in the region, but has also generated a positive dynamics to improve knowledge and care in rare diseases. Thus, 23 Member States have launched national plans for rare diseases, 24 reference networks have been created and the work of patients and the associative movement has been promoted. “It can be argued that Europe has benefited greatly from its Orphan Drug Regulation. The incentives it provides to pharmaceutical companies have transformed the lives of patients and their families, improving health outcomes and contributing to the economy of the entire European Union ”, adds the representative of Farmaindustria.

More research and better access to medicines

Precisely, on the occasion of World Rare Diseases Day, which is celebrated this Sunday, February 28, the vice president of the Spanish Federation of Rare Diseases (FEDER), Fide Mirón, highlights in this video on the We Are Patients Platform the need to follow betting more than ever on research in this field. “Only 5% of our diseases currently have a drug,” she recalls. “The complexity of our diseases and their low prevalence require high specialization and a concentration of cases to be able to approach and work with experience in the care required by patients who suffer from rare diseases.”

Mirón also draws attention to the difficulty both in diagnosing these pathologies and in accessing available treatments. “Most of us wait more than four years to give our disease a name. Among the consequences is the delay in access to a treatment that can slow down the progress of this pathology “, he says, and asks for this” greater support for patient associations that have proven to be the answer to families when they have done it the most. needy ”, he concludes.


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