Doubly orphans

Doubly orphans

The diagnosis of a serious illness can be followed by other, even more serious news: that there is no adequate treatment. This often occurs with rare or infrequent diseases, which affect one in two thousand people. The diagnosis usually takes a long time to arrive, and when it does, it is not accompanied by the positive or hopeful prognosis that there is a drug, but rather by the discouraging response that there isn’t.

Less than 5% of rare diseases (today there are several thousand identified) have a drug to treat them. And this, which paradoxically is a great advance, has been achieved in just twenty years. In 2000 there were eight orphan drugs approved in Europe, those that treat rare diseases. Today there are 184. We have multiplied that number by 23.

It has not been easy. R&D in orphan drugs faces many problems added to that of other drugs. The scientific ignorance about many of these diseases, the lack of patients to do clinical trials and the small number of patients potentially benefiting from each treatment are some of them.

Return of investment

All this greatly complicates the already difficult R&D process of a drug, which is long (10-12 years on average), expensive (about $ 2.5 billion) and very risky (only 10% of those who reach the clinical phase, the last before approval, manage to reach the market one day), and consequently considerably reduce the chances that the pharmaceutical company will obtain a sufficient return on your investment.

This complex reality led the European Commission to approve Regulation 141/2000 in 2000, a regulation aimed at generating, through incentives, a framework that would promote the private investment in orphan drug research.

It worked: in these two decades, in addition to multiplying by 23 the available medicines, the commitment of large pharmaceutical companies has been promoted and the creation of 220 SMEs working in this field.

Furthermore, between 2006 and 2016, the number of clinical trials on orphan drugs grew by 88% in Europe. Today in Spain -one of the leading countries in clinical research- 20% of approved trials are on orphans. The consequence is that one in four new medicines approved by the European Medicines Agency (EMA) is an orphan.

Reference networks

The Regulation has also provided the framework for innovative agreements between pharmaceutical companies and public health systems to facilitate financing and patient access to medicines without jeopardizing the financial sustainability of health systems. And around all these advances have been created in the EU 24 reference networks and 23 national plans on rare diseases, all of them critical to improve knowledge, diagnosis and patient care.

Now, within the framework of the new European Pharmaceutical Strategy being developed by the European Commission, this regulation of orphan drugs is being reviewed together with that of pediatric medications, another area in need of a specific framework to promote research.

The Commission wants to analyze whether both regulations meet the initial objective for which they were approved, Mainly promoting R&D in these two areas and making it possible to access these new drugs, which is important in the attempt to improve, if possible, the results achieved so far.

However, it is worrisome that this eventual revision of the regulation of this very special type of drugs can stop the progress made so far and upset the complex balance achieved between innovation, access and sustainability.

The achievements are clear, but also the immensity of the challenge that lies ahead: do not forget that 95% of rare or infrequent diseases have not yet been treated, and it is estimated that around thirty million people in Europe (about three million in Spain) are affected by some of these pathologies.

We must persevere on the path started twenty years ago and promote progress in light of the positive experience of these two decades. New policies must be formulated that support orphan drug R&D with solid incentives and, in parallel, industry and health authorities must deepen new agreements for the entry of these drugs into healthcare provision (payment-for-results agreements, agreements payment deferred in time, etc.) that allow agile access of patients to new treatments, allowing payers to better manage clinical uncertainty, budgetary impact and, therefore, the sustainability of health systems.

This requires that all those involved participate. Authorities, industry, health professionals and patients must analyze the path covered to date and the measures that have to be promoted from now on. There is no mistaking it. The health of thirty million Europeans (more than half of them children) is at stake. Failing them would be making them doubly orphans.

Humberto Arnés is the CEO of Farmaindustria.

Doubly orphans