Ultra-rare diseases

Rare and ultra-rare diseases affect very small numbers of patients. The European Commission definition of a rare disease is one that affects fewer than five people per 10,000 of the population.1 In contrast, a disease is generally considered to be ultra-rare if it affects less than one person per 50,000 people2 – and many ultra-rare diseases affect far fewer than this – as few as one per million or less.

Despite the very small numbers of people they affect, the impact that rare diseases have on sufferers, their families, and society is profound, as many 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, leading to missed, delayed or inaccurate diagnosis and thereby delaying 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 rare diseases.

1. REGULATION (EC) No 141/2000 OF THE EUROPEAN PARLIAMENT AND OF THE COUNCIL of 16 December 1999 on orphan medicinal products.
2. 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.