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Orphan designation

On 17 December 2010, orphan designation (EU/3/10/817) was granted by the European Commission to Genable Technologies Ltd, Ireland, for adeno-associated viral vector containing DNA encoding an RNAi targeting rhodopsin / adeno-associated viral vector containing a rhodopsin gene for the treatment of rhodopsin-linked retinitis pigmentosa.

In March 2017, Genable Technologies Ltd changed name to Spark Therapeutics Ireland Ltd.

What is rhodopsin-linked 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 seen in a variety of diseases, including diseases that affect the production of rhodopsin, a light-sensitive protein found in the retina. Patients with rhodopsin-linked retinitis pigmentosa have a mutation (fault) in the gene for this protein.

Rhodopsin-linked retinitis pigmentosa is a long-term debilitating disease because it causes the patient’s sight to deteriorate, eventually leading to blindness.

What is the estimated number of patients?

At the time of designation, rhodopsin-linked retinitis pigmentosa affected approximately 0.4 in 10,000 people in the European Union (EU)*. This is equivalent to a total of around 20,000 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 506,500,000 (Eurostat 2010).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for treating rhodopsin-linked retinitis pigmentosa. Patients with the condition were given genetic counselling (discussion of the risks of passing the condition on to children), treatment for complications such as cataract (clouding of the lens) and general support with the social and psychological impact of blindness.

How is this medicine expected to work?

The medicine is a ‘gene therapy product’ that works by delivering genes into the body. The medicine is made of two viruses. One virus contains a piece of DNA that blocks both copies of the patient’s rhodopsin gene, the normal copy and the faulty rhodopsin gene, and the other one contains a normal copy of the rhodopsin gene that cannot be blocked. When the medicine is injected into the eye, the viruses are expected to carry the genetic material into the cells of the eye so that only normal rhodopsin is produced.

The type of virus used in this medicine (adeno-associated virus) is modified so that it does not cause disease in humans.

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 the medicine in experimental models was ongoing.

At the time of submission, no clinical trials with the medicine in patients with rhodopsin-linked retinitis pigmentosa had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for rhodopsin-linked 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 7 October 2010 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>Adeno-associated viral vector containing DNA encoding an RNAi targeting rhodopsin / adeno-associated viral vector containing a rhodopsin gene</p>
Active substanceAdeno-associated viral vector containing DNA encoding an RNAi targeting rhodopsin / adeno-associated viral vector containing a rhodopsin gene
Medicine Name
Disease/conditionTreatment of rhodopsin-linked retinitis pigmentosa
Date of decision17/12/2010
Orphan decision numberEU/3/10/817

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

Spark Therapeutics Ireland Ltd
The Tower
Trinity Technology & Enterprise Campus
Pearse Street
Dublin 2
Tel. +353 87 2865356

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.