3.1. Orphan designation of Haemophilia A and B
A new legislation was introduced by the EU in 2000 in order to provide
incentives for the development of medicines for rare diseases called
orphan medicinal products. Orphan designation (OD) through the European
Orphan Regulation fosters research in new therapeutic approaches in the
treatment of rare diseases and sets the criteria for receiving an OD. We
retrieved the list of all rare disease (orphan) designations from 2000
(start of the Orphan regulation) to end of 2019 which are found on the
EMA’s website
(www.ema.europa.eu).
Resulting in a total of positive 2289 orphan designations. Data
extraction forms were designed as: medicine name, active substance,
Agency product number, date of first decision, disease/condition, EU
designation number, status of orphan designation, first published,
revision date, URL.
Among these orphan designations, we selected only ODs for the treatment
of haemophilia A and B. 41 ODs resulted from the filtered research.
Among them, 14 medicinal products were withdrawn from the Community
Register of designated Orphan Medicinal Products and 1 OD expired
(Figure 1). Thus, 26 ‘active’ ODs resulted from the research.
3.1.1. Classification of Haemophilia ODs
Of all active ODs, treatment of Haemophilia B and Haemophilia A are
almost equally represented (54% and 46% respectively). It was noted
that factor replacement therapy medicinal products represent the largest
group (42%) followed by Gene Therapy Medicinal Products (GTMPs) and
rebalancing therapy medicinal products (39% and 19% respectively)
(Figure 2). Replacement therapy involves the supply of the missing
clotting factor to the patient from an external source, which is slowly
injected into a vein. Rebalancing therapy aims to restore or rebalance
the coagulation system targeting natural anticoagulant pathways.