EU/3/17/1950 - orphan designation for treatment of Leber's congenital amaurosis

Adenovirus associated viral vector serotype 8 containing the human AIPL1 gene

Overview

On 12 December 2017, orphan designation (EU/3/17/1950) was granted by the European Commission to MeiraGTx UK II Limited, United Kingdom, for adenovirus associated viral vector serotype 8 containing the human AIPL1 gene for the treatment of Leber's congenital amaurosis.

The sponsorship was transferred to MeiraGTx B.V., The Netherlands in May 2019.

The sponsor’s address was updated in July 2021.

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 mutations (changes), 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 52,000 people¹, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).

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¹Disclaimer: 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 515,700,000 (Eurostat 2017).

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 the condition usually received regular medical follow up, vision aids and genetic counselling on the risks of passing the condition on to their children.

How is this medicine expected to work?

This medicine has been designed to treat Leber's congenital amaurosis type 4. This form of the disease is caused by mutations in a gene called AIPL1 which is involved in the production of an enzyme that is important for the correct functioning of the light-sensitive cells of the eye.

This medicine is made of a virus that contains normal copies of the AIPL1 gene. When injected into the patient's eye, it is expected that the virus will carry the AIPL1 gene into the light-sensitive cells of the eye, restoring normal cell function and thereby helping to improve the patient's sight and reduce other symptoms of the disease.

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 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 31 October 2017 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/3/17/1950: Public summary of opinion on orphan designation: Adenovirus associated viral vector serotype 8 containing the human AIPL1 gene for the treatment of Leber’s congenital amaurosis

Reference Number: EMA/754024/2017

Key facts

• Active substance:
  Adenovirus associated viral vector serotype 8 containing the human AIPL1 gene
• Intended use:
  Treatment of Leber's congenital amaurosis
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/17/1950
• Date of designation:
  12/12/2017
• Sponsor:

  MeiraGTx B.V.; Paalbergweg 2-4; Amsterdam ; 1105 AG; Noord-Holland; Netherlands; tel: [phone]; e-mail: [e-mail]

Review of designation

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