EU/3/15/1474: Orphan designation for the treatment of Stargardt's disease

Stargardt's disease is a genetic (hereditary) disorder of the eye that leads to progressive loss of sight. Stargardt's disease is caused by abnormalities in a gene called ABCA4. The ABCA4 gene is responsible for the production of a protein called ABCR that regulates the transport of substances in and out of some cells in the retina (the light-sensitive surface at the back of the eye). In patients with Stargardt's disease, ABCR does not work properly. This causes deposits to build up inside the retina cells, which become damaged and eventually die.

Stargardt's disease is a long-term debilitating disease because the patient's sight becomes progressively worse and eventually leads to blindness.

At the time of designation, Stargardt's disease affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 51,000 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 512,900,000 (Eurostat 2015).

At the time of designation, no satisfactory methods were authorised in the EU for the treatment of Stargardt's disease.

The medicine contains ecothiopate iodide, which has been used in higher doses as eye drops for the treatment of open-angle glaucoma (a disease in which the pressure inside the eye rises because fluid cannot drain out of the eye) for over 40 years. The exact way ecothiopate iodide works in Stargardt's disease is not fully known but it is thought to involve stimulating the cells of the retina and reducing the formation of the substances that build up to form deposits within them. This is expected to improve the symptoms of the disease and reduce progression to blindness.

The effects of ecothiopate iodide have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with ecothiopate iodide in patients with Stargardt's disease were ongoing.

At the time of submission, ecothiopate iodide was not authorised anywhere in the EU for Stargardt's disease. Orphan designation of the medicine had been granted in the United States for treatment of this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 March 2014 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.