Rare and Ultra-rare Diseases

Rare and ultra-rare diseases affect very small numbers of patients. In Australia, a rare disease is defined as one that affects about 1 in 10,000 people or less—or about 2,000 Australians.1 The European Commission defines a rare disease as one that affects fewer than five people per 10,000 of the population, and an ultra-rare disease as one that affects less than one person per 50,000 people. In reality, most ultra-rare diseases affect far fewer individuals—as few people as one per million.2,3

Despite the very small numbers of people they affect, rare and ultra-rare diseases have a profound impact on sufferers, their families, and society, as many of these diseases are severe, chronic and progressive, with high mortality rates. People with severe and life-threatening rare diseases often live without hope as they have no effective treatment options and may face premature death.

Rare disorders often present unique public health challenges. Typically, few researchers or companies explore such diseases. It is also highly likely that very few physicians are familiar with diagnosing and treating these conditions. This can lead to missed, delayed or inaccurate diagnosis and, as a result, delayed treatment, even when an approved, effective therapy is available.

Alexion has a proven track record in overcoming these hurdles on behalf of patients, and has significant experience in developing and delivering breakthrough therapies for patients with severe and life-threatening ultra-rare diseases.

1. Definition from Therapeutic Goods Regulation 1990 (http://www.comlaw.gov.au/Details/F2012C00121; Accessed 7 January 2015) and as defined in The McKell Institute — Funding Rare Disease Therapies In Australia Report (available at http://mckellinstitute.org.au/wp-content/uploads/pdf/McKell_RareDiseases_A4-New-web.pdf; accessed 7 January 2015).
2. REGULATION (EC) No 141/2000 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 16 December 1999 on orphan medicinal products. http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32000R0141&qid=1421232987002&from=EN.
3. REGULATION (EU) No 536/2014 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 16 April 2014 on clinical trials on medicinal products for human use, and repealing Directive 2001/20/EC. http://eur-lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32014R0536&qid=1421232837997&from=EN.