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Orphan designation

Please note that this product was withdrawn from the Community Register of designated orphan medicinal products in April 2016 on request of the sponsor.

On 8 November 2012, orphan designation (EU/3/12/1069) was granted by the European Commission to Avena Therapeutics Ltd, Ireland, for adeno-associated viral vector encoding an inducible short hairpin RNA targeting claudin-5 (prior to administration of 17-dimethylaminoethylamino-17-demethocygeldanamycin) for the 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 less than 3.7 in 10,000 people in the European Union (EU)*. This is equivalent to a total of fewer than 187,000 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 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 a virus containing synthetic genetic material that is designed to reduce production of claudin-5, a protein important for maintaining a tight barrier between circulating blood and the cells of the retina. By reducing the production of this protein, the medicine is expected to make it easier for other medicines to cross the barrier to reach the retina. In this way it is expected to allow a different medicine, called ‘17-dimethylaminoethylamino-17-demethocygeldanamycin’, to be given to the patient and to cross the barrier and protect the cells in the retina against further damage.

The virus is activated by another medicine called doxycycline. Once the doxycycline has worn off the virus will become inactive again, and the normal barrier will be restored.

The type of virus used in this medicine (‘adeno-associated virus’) does not cause disease in humans.

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, no clinical trials with the medicinal product in patients with retinitis pigmentosa had been started.

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 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>Adeno-associated viral vector encoding an inducible short hairpin RNA targeting claudin-5 (prior to administration of 17-dimethylaminoethylamino-17-demethocygeldanamycin)</p>
Active substanceAdeno-associated viral vector encoding an inducible short hairpin RNA targeting claudin-5 (prior to administration of 17-dimethylaminoethylamino-17-demethocygeldanamycin)
Medicine Name
Disease/conditionTreatment of retinitis pigmentosa
Date of decision08/11/2012
Orphan decision numberEU/3/12/1069

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:

Avena Therapeutics Ltd
Room G48
Trinity Research and Innovation,
Trinity College
Dublin 2
Tel. +353 1 8961547

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.