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Orphan designation

On 8 November 2012, orphan designation (EU/3/12/1072) was granted by the European Commission to Enpharma Ltd, United Kingdom, for encapsulated human retinal pigment epithelial cell line transfected with plasmid vector expressing human ciliary neurotropic factor for the treatment of macular telangiectasia type 2.

The sponsorship was transferred to Le4D Limited, United Kingdom, in March 2018.

What is macular telangiectasia type 2?

Macular telangiectasia type 2 is a disease that leads to the progressive loss of sight in both eyes. 

The disease usually does not cause symptoms in its earliest stage and is often not diagnosed until the fifth or sixth decades of life, when the patient begins to experience loss of vision. Although the origin of the disease is unknown, the disease is characterised by damage in the nerve cells in the macula (the central part of the retina, the light-sensitive surface at the back of the eye).

Macular telangiectasia type 2 is a long-term debilitating disease because it causes loss of vision.

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

At the time of designation, macular telangiectasia type 2 affected less than 2.3 in 10,000 people in the European Union (EU)*. 

This is equivalent to a total of fewer than 116,000 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?

No satisfactory methods of treatment were authorised in the EU at the time of orphan designation.

How is this medicine expected to work?

The medicine consists of human retinal cells that have been genetically modified to produce a human growth factor called ciliairy neurotrophic factor (CNTF). The cells are contained in a small capsule that is surgically inserted into the eye. 

Once implanted into the eye, the retinal cells are expected to continuously produce and release CNTF, which stimulates and protects nerve cells such as specialised ‘photoreceptor’ cells responsible for detecting light in the retina of the eye. This is expected to prevent the loss of vision seen in macular telangiectasia type 2.

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 macular telangiectasia type 2 were ongoing.

At the time of submission, the medicinal product was not authorised anywhere in the EU for macular telangiectasia type 2. Orphan designation has been granted in the United States of America for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 5 October 2012 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>Encapsulated human retinal pigment epithelial cell line transfected with plasmid vector expressing human ciliary neurotropic factor</p>
Active substanceEncapsulated human retinal pigment epithelial cell line transfected with plasmid vector expressing human ciliary neurotropic factor
Medicine Name
Disease/conditionTreatment of macular telangiectasia type 2
Date of decision08/11/2012
Orphan decision numberEU/3/12/1072

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:

Le4D Limited
30 Mcindoe Drive
Wendover HP22 5GF
United Kingdom
Tel: 0044759596748

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.