EU/3/12/1007

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Orphan designation

On 28 November 2012, orphan designation (EU/3/12/1007) was granted by the European Commission to Avena Therapeutics Ltd, Ireland, for 17-(dimethylaminoethylamino)-17-demethoxygeldanamycin (after administration of adeno-associated viral vector encoding an inducible short hairpin RNA targeting claudin-5) 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 can cause night blindness and tunnel vision, which can progress to total 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 submission of the application for orphan 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 contains the active substance ‘17-(dimethylaminoethylamino)-17-demethoxygeldanamycin’ (17-DMAG), which is expected to attach to a protein called heat shock protein (Hsp90), triggering a reaction that is expected to protect cells in the retina against further damage.

Before it can have its effect, however, 17-DMAG needs to cross the barrier separating the circulating blood form the retinal tissue. For that to happen, a virus containing genetic material will first be injected into the eye followed by a substance called doxycycline. Doxycycline is expected to activate the virus, which will cause the barrier to become temporarily permeable to 17-DMAG.

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 11 May 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>17-(Dimethylaminoethylamino)-17-demethoxygeldanamycin (after administration of adeno-associated viral vector encoding an inducible short hairpin RNA targeting claudin-5)</p>
Active substance17-(Dimethylaminoethylamino)-17-demethoxygeldanamycin (after administration of adeno-associated viral vector encoding an inducible short hairpin RNA targeting claudin-5)
Medicine Name
Disease/conditionTreatment of retinitis pigmentosa
Date of decision28/11/2012
OutcomePositive
Orphan decision numberEU/3/12/1007

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
Trinity Research and Innovation
Trinity College Dublin
Dublin 2
Ireland
Tel. +353 1 8961547
E-mail: pete.humphries@tcd.ie

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.