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Orphan designation

On 17 July 2013, orphan designation (EU/3/13/1168) was granted by the European Commission to University Newcastle upon Tyne, United Kingdom, for ex-vivo-expanded autologous human corneal epithelium containing stem cells for the treatment of limbal-stem-cell deficiency.

What is limbal-stem-cell deficiency?

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 disease that is debilitating to patients because of the impaired vision and discomfort it causes.

What is the estimated number of patients affected by the condition?

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 102,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 509,000,000 (Eurostat 2013).

What treatments are available?

At the time of designation, there were no satisfactory treatments authorised for treating the condition in the EU. Treatment being used included transplantation of limbal stem cells, obtained where possible from the patient’s other eye.

How is this medicine expected to work?

This product is made of cells that are taken from the surface of the patient’s other eye and grown in the laboratory using a culture system containing cells derived from the human placenta. The cells form a layer called an epithelium, which is then implanted into the patient’s damaged eye or eyes. The stem cells contained within the epithelium are then expected to help the cornea to regenerate, restoring the patient’s vision.

What is the stage of development of this medicine?

The effects of the medicinal product have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicinal product in patients with limbal-stem-cell deficiency were ongoing.

At the time of submission, the medicinal product 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 13 June 2013 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:
  • 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.

Key facts

Product details for <p>Ex-vivo-expanded autologous human corneal epithelium containing stem cells</p>
Active substanceEx-vivo-expanded autologous human corneal epithelium containing stem cells
Medicine Name
Disease/conditionTreatment of limbal-stem-cell deficiency
Date of decision17/07/2013
Orphan decision numberEU/3/13/1168

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.

Sponsor’s contact details:

University of Newcastle upon Tyne
Kings Gate
Newcastle upon Tyne
United Kingdom
Tel. +44 (0)191 208 434
Fax +44 (0)191 208 3245

Patients' organisations

For contact details of patients’ organisations whose activities are targeted at rare diseases, see:

  • Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe;
  • European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.