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Orphan designation

On 13 May 2011, orphan designation (EU/3/11/861) was granted by the European Commission to ORS Oxford Ltd, United Kingdom, for 9-cis-retinyl acetate for the treatment of Leber’s congenital amaurosis. The sponsorship was transferred to QLT Ophthalmics (UK), Ltd, United Kingdom, in November 2011.

What is Leber’s congenital amaurosis?

Leber’s congenital amaurosis is an inherited disease characterised by loss of sight at birth or soon after birth. The disease is linked to a number of genetic defects, which affect the normal development of the light-sensitive cells in the eye.

Leber’s congenital amaurosis is a long-term debilitating disease due to progressive loss of vision.

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

At the time of designation, Leber’s congenital amaurosis was estimated to affect less than 1 in 10,000 people in the European Union (EU)*. This is 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 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).

What treatments are available?

At the time of submission of the application for orphan designation, no satisfactory methods were authorised in the EU for treating Leber's congenital amaurosis. Patients with Leber’s congenital amaurosis usually received genetic counselling on the risks of passing the condition on to children and regular medical follow up.

How is this medicine expected to work?

11-cis-Retinal is a substance derived from vitamin A that the specialised light-sensitive photoreceptor cells in the retina need, to be able to translate light into nerve impulses. In Leber’s congenital amaurosis, the retina does not produce or regenerate enough of 11-cis-retinal and the photoreceptor cells become depleted and damaged.

9-cis-Retinyl acetate is expected to be taken by mouth and converted into 9-cis-retinal in the retina. 9-cis-Retinal is similar to the deficient 11-cis-retinal and is expected to replace it, thus enabling the photoreceptor cells to function properly.

What is the stage of development of this medicine?

At the time of submission of the application for orphan designation, the evaluation of the effects of 9-cis-retinyl acetate in experimental models was ongoing.

At the time of submission of the application for orphan designation, clinical trials with 9-cis-retinyl acetate in patients with Leber’s congenital amaurosis were ongoing.

At the time of submission, 9-cis-retinyl acetate was not authorised anywhere in the EU for Leber’s congenital amaurosis 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 9 February 2011 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>9-<em>cis</em>-Retinyl acetate</p>
Active substance9-cis-Retinyl acetate
Medicine Name
Disease/conditionTreatment of Leber’s congenital amaurosis
Date of decision13/05/2011
Orphan decision numberEU/3/11/861

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:

QLT Ophthalmics (UK), Ltd
c/o Hackwood Secretaries Limited One Silk Street London EC2Y 8HQ United Kingdom
Tel: +44 (0)20 7456 2000
Fax: +44 (0)20 7456 2222

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.