• Email
  • Help

Orphan designation

On 24 January 2013, orphan designation (EU/3/12/1098) was granted by the European Commission to Enpharma, United Kingdom, for encapsulated human retinal pigment epithelial cell line transfected with plasmid vector expressing human ciliary neurotrophic factor for treatment of retinitis pigmentosa.

What is retinitis pigmentosa?

Retinitis pigmentosa is a group of hereditary diseases of the eye that lead to progressive loss of sight. In patients with retinitis pigmentosa, cells in the retina (the light-sensitive surface at the back of the eye) become damaged and eventually die.

Retinitis pigmentosa is a long-term debilitating disease because it causes the patient’s sight to get worse, eventually leading to blindness.

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

At the time of designation, retinitis pigmentosa affected approximately 3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 153,000 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, no satisfactory methods were authorised in the EU for treating retinitis pigmentosa. Patients with the condition were given sunglasses to slow down the damage to the retina, genetic counselling (discussion of the risks of passing the condition on to children) and general support.

How is this medicine expected to work?

The medicine consists of human retinal cells that have been modified to contain a gene responsible for the production of a protein called ciliary 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 retinitis pigmentosa.

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 retinitis pigmentosa were ongoing.

At the time of submission, the medicinal product was not authorised anywhere in the EU for retinitis pigmentosa 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 6 December 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 neurotrophic factor</p>
Active substanceEncapsulated human retinal pigment epithelial cell line transfected with plasmid vector expressing human ciliary neurotrophic factor
Medicine Name
Disease/conditionTreatment of retinitis pigmentosa
Date of decision24/01/2013
Orphan decision numberEU/3/12/1098

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:

Enpharma Ltd
North House
Farmoor Court
Cumnor Road
United Kingdom
Tel. +44 (0)1993 886658; +1 401 33 338 80
Fax +1 401 33 338 81

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.