EU/3/20/2254

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 long-term debilitating diseases because they cause the patient's sight to get worse, eventually leading to blindness.

At the time of designation, inherited retinal dystrophies affected less than 3 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 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 orphan designation, the medicine Luxturna was authorised in the EU for the treatment of a form of inherited retinal dystrophy caused by mutations (changes) in the gene RPE65.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with inherited retinal dystrophies. This is because early laboratory data have shown that this medicine can be used in patients with a form of the disease caused by mutations in a different gene, CEP290, for which no treatments are currently authorised. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

Some forms of inherited retinal dystrophy are caused by mutations in the CEP290 gene, which is responsible for the production of a protein called centrosomal protein 290, that is necessary for the normal functioning of retinal cells. In patients with this form of the disease, this protein is lacking or does not function properly.

The medicine contains three viruses, each containing a different portion of a normal CEP290 gene. When injected into the eye, under the retina, it is expected that the viruses carry the CEP290 gene portions into the retinal cells, enabling them to produce a functioning CEP290 protein. This is then expected to help the cells in the retina to work better, reducing symptoms of the condition.

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

At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.

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 inherited retinal dystrophies 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.