EU/3/14/1256 - orphan designation for treatment of Leber's congenital amaurosis

adeno-associated viral vector serotype 8 containing the human GUCY2D gene

Overview

On 26 March 2014, orphan designation (EU/3/14/1256) was granted by the European Commission to Fondazione Telethon, Italy, for adeno-associated viral vector serotype 8 containing the human GUCY2D gene for the treatment of Leber's congenital amaurosis.

For a list of the administrative updates to this public summary of opinion please refer to the PDF document below.

What is Leber's congenital amaurosis?

Leber's congenital amaurosis is an inherited disease characterised by loss of sight at birth or soon after birth. The disease is linked to a number of genetic defects, which affect the normal development of the light-sensitive cells in the eye.

Leber's congenital amaurosis is a long-term debilitating disease due to progressive loss of vision.

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

At the time of designation, Leber's congenital amaurosis affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 51,000 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. At the time of designation, this represented a population of 512,900,000 (Eurostat 2014).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for treating Leber's congenital amaurosis. Patients with Leber's congenital amaurosis usually received genetic counselling on the risks of passing the condition on to their children, and regular medical follow up.

How is this medicine expected to work?

One form of Leber's congenital amaurosis is caused by a defect in the gene GUCY2D, which is responsible for the production of a protein called RetGC1. This protein has a key role in the correct functioning of the light-sensitive cells of the eye.

This medicine is made of a virus that contains a normal copy of the GUCY2D gene. When injected into the patient's eye, it is expected that the virus will carry the GUCY2D gene into the light-sensitive cells of the eye, enabling the cells to work normally and thereby helping to improve the patient's sight.

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 this medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with Leber's congenital amaurosis had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for Leber's congenital amaurosis 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 February 2014 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/3/14/1256: Public summary of opinion on orphan designation: Adeno-associated viral vector serotype 8 containing the human GUCY2D gene for the treatment of Leber’s congenital amaurosis

Adopted Reference Number: EMA/COMP/97253/2014 Rev. 1

Key facts

• Active substance:
  adeno-associated viral vector serotype 8 containing the human GUCY2D gene
• Intended use:
  Treatment of Leber's congenital amaurosis
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/14/1256
• Date of designation:
  26/03/2014
• Sponsor:

  Fondazione Telethon Ets;