EN SV HOME ABOUT FOCUS ON RARE DISEASES Rare diseases There are thought to be around 6,000 distinct rare diseases, affecting more than 300 million people around the world. Yet around 95 per cent of rare diseases currently have no approved treatment. 0 % of rare diseases currently have no approved treatment 0 million people affected 0 % of rare diseases affect children The rare disease space is unlike any other in medicine. In Europe, a rare disease is defined as one affecting fewer than one person per 2,000. In the US, the Orphan Drug Act of 1983 defines a rare disease as a condition affecting fewer than 200,000 people. High unmet medical need An estimated 75 per cent of identified rare diseases affect children, often having a devastating effect on life expectancy and quality of life. Around 30 per cent of children diagnosed with a rare disease will not live to see their fifth birthday. The severe nature of many rare diseases often leads to high levels of distress for patients and their families, with an accompanying high treatment burden. Around 80 per cent of rare diseases are inherited rather than acquired: they involve a defect in the genes that tell our bodies how to work. As a result, the body may fail to produce an essential enzyme or protein, for example, or its own immune defences may attack its own systems. Many physicians may never have seen a specific rare condition before; as a result, many cases can go undiagnosed for years. Rare challenges The rare disease landscape presents specific scientific, medical and commercial challenges. They range from understanding the biology of a disease, identifying molecules that can become successful treatments, developing the complex biopharmaceutical processes to manufacture a drug, designing and running clinical trials in extremely small patient populations, obtaining regulatory approvals, negotiating pricing and reimbursement, through to working with healthcare professionals and patients to ensure access for the people who need the treatment. Such treatments are referred to as “orphan drugs,” intended to treat diseases so rare that companies would be reluctant to develop them under normal market conditions. Rapidly growing market The orphan drug market was estimated in 2018 at USD 131 billion. By 2024, it is projected to reach USD 242 billion, with a compound annual growth rate (CAGR) of 12.3 per cent. This is double the growth estimated for the non-orphan market. References https://www.rarediseaseday.org/article/what-is-a-rare-disease EvaluatePharma® Orphan Drug Report 2019 https://www.nature.com/articles/d41573-019-00014-x www.globalgenes.org About us At a glance Rare diseases Therapeutic areas Haematology Immunology Specialty Care portfolio Investors Reports & presentations Share information Calendar Career Open positions Meet our employees Media Press releases Gallery Sobiplay Sitemap Cookie Policy Privacy Policy Terms of use Cookies Settings © Swedish Orphan Biovitrum AB (publ) Reg. no. 556038-9321 This website uses cookies By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts. Accept All Cookies Cookies Settings