report on rare disease research, its determinants in ... - Orphanet

REPORT ON RARE DISEASE RESEARCH, ITS DETERMINANTS IN EUROPE AND THE WAY FORWARD
These marketing authorisations concern indications for the treatment of 66 different RDs and
represent 61 different products.
These figures demonstrate that R&D is flourishing in the field of RDs but also that therapeutic
developments are far too limited compared to needs.
3.3.2. Determinants of R&D
3.3.2.1. Prevalence of RDs as a determinant
One question we can ask is whether the degree of rarity influences efforts or even the success of
research in rare diseases, as it has been suggested that prevalence directly affects the likelihood of
obtaining an orphan designation 50
.
When looking at the figures of the COMP (Committee for Orphan Medicinal Products) regarding
COMP opinions by prevalence of condition, the majority of conditions for which products have been
given orphan designation affect between one and three in 10 000 people in the EU (see Figure 10).
Figure 10: COMP opinions by prevalence of condition 51
Therefore, although a “higher” prevalence could lead to an increased awareness of a disease and
could facilitate some aspects of research such as clinical research, there is no clear correlation
between the level of prevalence and the submission of an orphan designation, which means that
Industry is willing to develop products for diseases with a very low prevalence, providing that there is
a real medical need and a good potential product.
3.3.2.2. Medical area as a determinant in Europe
While low prevalence is a characteristic feature of RDs, this field is actually very heterogeneous and
considering RDs as a single group may sometimes obscure the analysis. This is why it may be
interesting to consider RDs by medical field in order to establish some specific trends.
Harald E. Heemstra 52 highlighted the fact that disease-specific factors or disease classes are of high
interest when examining the translation of rare disease research into orphan drug development. For
example, rare cancers could be considered, on the one hand, because they often benefit from the
global research momentum in the oncology field 53 . Indeed, rare cancers, such as acute myeloid
leukaemia for instance, are in the top 20 indications for which drugs that have been granted an
orphan designation by the COMP (see Figure 11).
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