The subject of rare disease numbers is rife with misconceptions, not just in websites and
other layman's literature, but also in the medical literature. Various websites mention …

Most rare diseases still lack approved treatments despite major advances in research
providing the tools to understand their molecular basis, as well as legislation providing …

Background Over the past decades, US Congress enabled the US Food and Drug
Administration (FDA) to facilitate and expedite drug development for serious conditions …

Health inequity refers to the existence of unnecessary and unfair differences in the ability of
an individual or community to achieve optimal health and access appropriate care. Kidney …

Rare diseases collectively exert a global public health burden in the severity of their
manifestations and the total number of people they afflict. For many patients, considerable …

Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly
affects children and represents the most common cause of hereditary infant mortality. The …

Background: Despite international initiatives on collaboration within the field of rare
diseases, patient access to orphan medicinal products (OMPs) and healthcare services …

Background Successful development of new treatments for rare diseases (RDs) and their
sustainable patient access require overcoming a series of challenges related to research …

While advanced therapy medicinal products offer great clinical promise, most EU-approved
products have not achieved satisfactory commercial performance. Here we highlight a …

Background. Previous research focused on the clinical evidence supporting new cancer
drugs' initial US Food and Drug Administration (FDA) approval. However, targeted drugs are …