Research into rare diseases has been obtaining great results in recent years thanks to the efforts of researchers, regulators, healthcare professionals, patients and pharmaceutical companies. This is reflected in the latest annual approval report from the European Medicines Agency (EMA), corresponding to 2022: of the 41 innovative medicines (with new active ingredients) authorized last year, 39% (16) are intended to treat diseases rare.
Some of the orphan drugs approved last year in Europe have great potential to benefit patients, as they address diseases for which no treatment existed. It is the case of melanoma uveala rare cancer of the eye, or infantile progeroid syndrome. The first gene therapy for severe hemophilia B and the first specific drug for the metabolic disorder caused by acid sphingomyelinase deficiency were also approved last year.
Promoting research and achieving treatments that cure or at least improve the quality of life is one of the demands of patients with rare pathologies. But without a diagnosis “there is no treatment”, as Juan Carrión, president of the Spanish Federation of Rare Diseases (Feder), recalls. Obtaining a diagnosis is essential to be able to access new medicines, however, this period is greater than four years on average in our country.
«It is essential that Spain position itself as a country that promotes research and innovation, meeting the challenge of reaching 1.25 of GDP. But also favoring access to treatments in fair conditions, guaranteeing that all treatments with marketing authorization from the EMA are incorporated into our national health system”, Carrión emphasizes.
In our country, access to new treatments in our country continues to be a challenge, since as of December 2022 there were 146 authorized medicines in Europe, but 63 were available in Spain, that is, 43%.
“The average time it took Spain to incorporate orphan drugs was more than two years in 2022,” recalls the director of the Farmaindustria Access Department, Isabel Pineros. “The number of new authorizations shows the clear commitment of the pharmaceutical industry to treatments for rare diseases, but it is necessary to strengthen collaboration with the Administration so that this innovation reaches patients sooner,” she adds.
Obtaining a diagnosis is essential to be able to access new medicines, however, this period is more than four years on average in our country.
The best reflection of this statement is that Spain is one of the leading countries in the implementation of clinical trials focused on rare diseases. In 2022, 25% of the studies authorized in our country were for orphan drugs, a figure that has been increasing in recent years.
In this sense, and in order to improve the access of patients with rare diseases to new treatments, Farmaindustria has recently presented a document with proposals to improve access to orphan drugs in Spain, among which the establishment of an early dialogue between Administration and companies, develop an accelerated procedure and establish a specific system for orphan drugs that takes into account their specificities.
Farmaindustria is also committed to establishing clear, transparent and predictable mechanisms to expedite the evaluation of these medicines and advance in the collection of information on their impact on the health of patients.