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Table 2 General requirements and special considerations for the description of the condition in an application for orphan designation reproduced from the guideline ENTR 6283/00 Rev 03

From: Use of biomarkers in the context of orphan medicines designation in the European Union

General requirements
(a) The characteristics defining a distinct condition should determine a group of patients in whom development of a medicinal product is plausible, based on the pathogenesis of the condition and pharmacodynamic evidence and assumptions.
(b) Recognised distinct medical entities would generally be considered as valid conditions. Such entities would generally be defined in terms of their specific characteristics, e.g. pathophysiological, histopathological, clinical characteristics.
(c) Different degrees of severity or stages of a disease would generally not be considered as distinct conditions.
The fact that a subset of patients exists in whom the medicinal product is expected to show a favourable benefit/risk (as defined in the proposed therapeutic indication) would generally not be sufficient to define a distinct condition.
Special considerations
(a) Considering the above general requirements, convincing arguments would need to be presented to justify the medical plausibility of any proposed subset and the rationale for excluding the larger population. A subset of a disease which, when considered as a whole, has a prevalence greater than 5 in 10,000, could be considered a valid condition if patients in that subset present distinct and unique evaluable characteristic(s) with a plausible link to the condition and if such characteristics are essential for the medicinal product to carry out its action. In particular, the pathophysiological characteristics associated with this subset should be closely linked to the pharmacological action of the medicinal product in such a way that the absence of these characteristics will render the product ineffective in the rest of the population.
(b) Patients may be affected by more than one condition. Generally the intersection of two (or more) concomitant conditions would not be considered as a valid condition. However, it could be acceptable, if such intersection resulted in a certain new evaluable characteristic essential for the pharmacological effect and the medical outcome.
(c) Exceptionally, the need for a particular treatment modality (regardless of underlying diseases) can be considered as a valid criterion to define a distinct condition.