Rare diseases have also been impacted by the SARS-CoV-2 pandemic. Only in the first wave, the care of these patients was interrupted in 91% of the cases; diagnoses, genetic tests or surgical tests were stopped.
A year later, denounces Fide Mirón, vice president of the Spanish Federation of Rare Diseases (FEDER), these problems have become endemic, especially in primary care or waiting lists.
On the occasion of World Rare Diseases Day, which is celebrated today, Sunday February 28, Mirón highlights the need to continue betting more than ever on research in this field. “Only 5% of our diseases currently have a drug,” he recalls.
“The complexity of our diseases and their low prevalence require a high degree of specialization and a concentration of cases to be able to approach and work with experience in the care required by patients suffering from rare diseases,” he says.
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 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 most needy, ”he says.
Fortunately, in Spain there are currently about 700 clinical trials 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 focuses on 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 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.