Why we should care about ultra-rare disease

Abstract

To date, more than 7000 rare diseases have been identified which affect 30–40 million patients in the European Union (EU), and some 250 new rare diseases are described every year [1, 2]. Primary or secondary lung involvement occurs in ∼5% of rare diseases; therefore, approximately 1–2 million people in the EU are likely to be affected by rare pulmonary diseases [3]. This means that if individuals suffering from rare diseases are by definition “uncommon”, rare conditions affect a very large number of people. Arguably, in the past few years interest in rare diseases has grown, as demonstrated by the agendas of politicians and health authorities, but too little attention is still paid to ultra-rare diseases. Although no legal definition of an “ultra-rare” disease has yet been established, this subcategory was introduced by the National Institute for Health and Care Excellence for drugs with indications for diseases that have a prevalence of <1 per 50 000 persons [4–6]. According to EU legislation, patients suffering from a rare condition are entitled to the same standard of care as other patients [7]. In some European countries, such as Italy and the Netherlands, the right to healthcare is protected constitutionally and everyone is entitled to equal access to public healthcare [8]. Moreover, article two of the European Convention on Human Rights (ECHR) states that “Everyone's right to life shall be protected by law” [9]. Orphan drugs for patients with ultra-rare diseases: between cost-effectiveness and equality of access to cure <http://ow.ly/Zlmf4>

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