The Definition of Ultra Rare

Unlike the definition of “rare” as 200,000 or fewer patients, the definition of “ultra orphan” or “ultra rare” has yet to be codified in statute.

In the European Union (EU), a disease is considered ‘orphan’ if it is a life-threatening or seriously debilitating disorder that affects fewer than 1 per 2 000 (or less than 0.05 %) of the population. To date, 7 000 rare diseases have been identified, affecting 30–40 million patients in the EU.  Although no legal definition of ‘ultra-orphan’ diseases has been established, this subcategory was introduced by the National Institute for Health and Care Excellence (NICE). It is suggested to be applied to diseases with an estimated prevalence of <1:50,000.

Reference: Excellence NIfC. NICE Citizens Council Report on Ultra Orphan Drugs. London 2004. For more information, click here.

ICER will consider using an adapted approach to value assessment for treatments that will be called a “potential major advance for a serious ultra-rare condition” if the three following criteria apply:

  • The treatment is envisaged for a patient population of fewer than 10,000 individuals

  • There is little chance of future expansion of indication or population that would extend

  • the size of the treated population above 20,000 individuals

  • The treatment potentially offers a major gain in improved quality of life and/or length of life

Reference: Institute for Clinical and Economic Review (ICER)’s proposed framework changes to its value framework for assessment of treatments for ultra-rare conditions.