Good news on rare diseases

by Gary Finnegan: The number of new medicines for rare diseases approved by EU drug regulators hit a record high in 2014. Of the 82 medicines given the green light last year, 17 were intended for the treatment of a rare illness.

So-called ‘orphan medicines’, which target conditions that affect fewer than one in 5,000 people and for which there are no existing therapies, are given a fast-track to market and are sometimes subject to specially-adapted approval criteria.

For example, some new medicines target such a small patient group that large-scale phase III clinical trials may be impractical so manufacturers can be offered a ‘conditional’ approval, allowing them time to collect more data from patients to demonstrate effectiveness.

The first ever approved medicine for the treatment of Duchenne muscular dystrophy (Translarna) and the first treatment for erythropoietic protoporphyria, a rare genetic disease which causes intolerance to light (Scenesse), were given the nod by the European Medicines Agency (EMA) in 2014.

The past year also saw the first recommendation worldwide of a therapy based on stem cells. The orphan medicine (Holoclar) is a treatment for limbal stem cell deficiency (LSCD), a rare eye condition that can result in blindness.

Eight new medicines for cancer were recommended in 2014, of which Lynparza, Imbruvica, Gazyvaro and Cyramza target rare cancers that are difficult to treat. A targeted treatment for melanoma patients whose cancer has a specific mutation was also recommended for approval in 2014 (Mekinist).

Overall, the number of medicines containing new active substances continues to increase. One in two medicines, either orphan or non-orphan, recommended for approval in 2014, contains a substance that has never been used in medicines before. These medicines have the potential to treat diseases for which no treatments were previously available or bring added benefit to patients over existing therapies.