EU/3/18/2111:

Limbal stem cell deficiency is an eye condition in which the patient lacks cells called limbal stem cells, which are found at the edge of the cornea (the transparent layer in front of the eye) and which continuously renew and repair the cornea. The deficiency of limbal stem cells leads to clouding of the cornea and may result in impaired vision or blindness.

Limbal stem cell deficiency is a long-term debilitating disease because of the impaired vision and discomfort it causes.

At the time of designation, limbal stem cell deficiency affected approximately 2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 103,000 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 517,400,000 (Eurostat 2018).

At the time of designation, the medicine Holoclar was authorised to treat patients with moderate to severe limbal stem cell deficiency caused by burns, including chemical burns, to the eyes.

The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with limbal stem cell deficiency because laboratory studies showed that the medicine could be used in a broader patient population than the currently authorised treatment. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.

This product is made of limbal stem cells that are obtained from a donor’s eye and grown in the laboratory. When the stem cells are placed onto the surface of the patient’s damaged eye, they are expected to help the cornea to regenerate, restoring the patient’s vision.

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 limbal stem cell deficiency had been started.

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

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 November 2018 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.