EU/3/15/1561 - orphan designation for treatment of aniridia

ataluren

Overview

On 9 October 2015, orphan designation (EU/3/15/1561) was granted by the European Commission to PTC Therapeutics International Limited, Ireland, for ataluren for the treatment of aniridia.

What is aniridia?

Aniridia is a rare inborn disorder in which the tissue that makes up the iris (the coloured part of the eye) is underdeveloped or completely missing. This means that the eye is not able to adjust to differing levels of light. Aniridia affects both eyes and causes poor vision and increased sensitivity to light. The disorder may be associated with other changes to other parts of the eye, either from birth or developing over time. Other senses may also be affected, including reduced sense of smell and taste, and hearing difficulties.

Aniridia is almost always caused by a mutation (change) in a gene named PAX6, which is involved in the development of the eye and other tissues. Patients may also have other genetic problems.

Aniridia is a long-term debilitating condition due to progressive loss of sight.

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

At the time of designation, aniridia affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 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).

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*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 28), Norway, Iceland and Liechtenstein. This represents a population of 512,900,000 (Eurostat 2015).

What treatments are available?

At the time of designation, no satisfactory method had been authorised in the EU to treat aniridia. Treatment of patients with aniridia primarily involved supportive treatments such as spectacles, tinted lenses to reduce damage to the retina, surgery for cataracts (a complication of aniridia) and measures to reduce increased pressure in the eye.

How is this medicine expected to work?

The PAX6 gene is responsible for producing a protein required for normal development of eye tissues, including the iris. Some patients with aniridia have a change in the PAX6 gene (a 'nonsense mutation') that leads to production of the protein being stopped short before it is complete. Ataluren works in these patients by enabling the protein-making apparatus in cells to move past the mutated gene, allowing the cells to produce a functional protein.

What is the stage of development of this medicine?

The effects of ataluren have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with ataluren in patients with aniridia had been started.

Ataluren has been authorised as Translarna in the EU for the treatment of Duchenne muscular dystrophy due to a nonsense mutation.

At the time of submission, the medicine was not authorised anywhere in the EU for aniridia. Orphan designation for ataluren has been granted in the United States for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 3 September 2015 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.

EU/3/15/1561: Public summary of opinion on orphan designation: Ataluren for the treatment of aniridia

Adopted Reference Number: EMA/COMP/607054/2015

Key facts

• Active substance:
  ataluren
• Intended use:
  Treatment of aniridia
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/15/1561
• Date of designation:
  09/10/2015
• Sponsor:

  PTC Therapeutics International Limited;

Review of designation

The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.