EU/3/20/2249

Inherited retinal dystrophies are a group of hereditary diseases of the eye that lead to progressive loss of sight. In patients with inherited retinal dystrophies, cells in the retina (the light-sensitive surface at the back of the eye) become damaged and eventually die.

Inherited retinal dystrophies are debilitating in the long term because they cause the patient’s sight to get worse, eventually leading to blindness.

At the time of designation, IRD affected approximately 3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 156,000 people^*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This is based on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

^*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed on the basis of data from the European Union (EU 28), Norway, Iceland and Liechtenstein. This represents a population of 519,200,000 (Eurostat 2020).

At the time of designation, the medicines Raxone (idebenone) and Luxturna (voretigene neparvovec) were authorised in the EU for the treatment of certain subtypes of inherited retinal dystrophies. 

The sponsor has provided sufficient information to show that the medicine might improve vision in patients with certain types of inherited retinal dystrophies, for whom no authorised products are available. This assumption is based on data from studies in the laboratory and will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status. 

Inherited retinal dystrophies are caused by mutations (changes) in the genes responsible to produce the proteins necessary for the normal functioning of retinal cells. In patients with these mutations the proteins are lacking.

The medicine consists of a virus that contains two genes, RdCVF and RdCVFL, involved in normal functioning of retinal cells and preventing them from damage. When injected into the patient's eye, under the retina, it is expected that the virus will carry the genes into the retinal cells, thereby helping the cells to function better and reducing progression of the condition, regardless of the genetic mutation causing the disease.

The virus used in this medicine (adeno-associated virus) does not cause disease in humans.

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with inherited retinal dystrophies had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of IRD or designated as an orphan medicinal product elsewhere for this condition.

In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 22 January 2020, recommending the granting of this designation.

• the seriousness of the condition;
• the existence of alternative methods of diagnosis, prevention or treatment;
• either the rarity of the condition (affecting not more than 5 in 10,000 people in the EU) or insufficient returns on investment.

Designated orphan medicinal products are products that are still under investigation and are considered for orphan designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of quality, safety and efficacy is necessary before a product can be granted a marketing authorisation.