EU/3/16/1795 - orphan designation for treatment of achromatopsia caused by mutations in the CNGA3 gene

adeno-associated viral vector serotype 8 containing the human CNGA3 gene under the control of a cone arrestin promoter

Overview

On 12 December 2016, orphan designation (EU/3/16/1795) was granted by the European Commission to Universitätsklinikum Tübingen, Germany, for adeno-associated viral vector serotype 8 containing the human CNGA3 gene under the control of a cone arrestin promoter for the treatment of achromatopsia caused by mutations in the CNGA3 gene.

What is achromatopsia caused by mutations in the CNGA3 gene?

Achromatopsia is an inherited disease of the eye that leads to reduced visual acuity (how well a person can see), colour blindness, severe photophobia (eye discomfort in bright or even normal light) and nystagmus (fast involuntary eye movements). Achromatopsia affects the retina, the light-sensitive surface at the back of the eye. In patients with achromatopsia, retina cells called 'cone photoreceptors' do not work normally. These cells are needed to see in bright light and for seeing colours.

Achromatopsia is often caused by mutations (changes) in the CNGA3 gene. It is a long-term debilitating disease because it affects how well a person can see in bright light, which may limit everyday activities.

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

At the time of designation, achromatopsia caused by mutations in the CNGA3 gene affected approximately 0.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 15,000 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 513,700,000 (Eurostat 2016).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for treating achromatopsia. Patients with the condition were given glasses with red-coloured lenses to reduce discomfort from bright light, as well as glasses to help with reading and seeing at long distance.

How is this medicine expected to work?

In this disease, a protein involved in the normal functioning of cone photoreceptors, called the CNGA3 protein, does not work properly due to defects in the gene responsible for producing it.

This medicine is made up of a virus that contains normal copies of the CNGA3 gene. When injected into the patient's eyes, it is expected that the virus will carry the CNGA3 gene into photoreceptor cells, so that a working CNGA3 protein can be produced. This is expected to enable cone photoreceptors to work properly, thereby improving the symptoms of the disease.

The 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, clinical trials with the medicine in patients with achromatopsia caused by mutations in the CNGA3 gene were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for achromatopsia caused by mutations in the CNGA3 gene 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 4 November 2016 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/3/16/1795: Public summary of opinion on orphan designation: Adeno-associated viral vector serotype 8 containing the human CNGA3 gene under the control of a cone arrestin promoter for the treatment of achromatopsia cau...

Adopted Reference Number: EMA/746037/2016

Key facts

• Active substance:
  adeno-associated viral vector serotype 8 containing the human CNGA3 gene under the control of a cone arrestin promoter
• Intended use:
  Treatment of achromatopsia caused by mutations in the CNGA3 gene
• Orphan designation status:
  Positive
• EU designation number:
  EU/3/16/1795
• Date of designation:
  12/12/2016
• Sponsor:

  Universitätsklinikum Tübingen (UKT); Geissweg 3 ; 72076 Tübingen; Germany; 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.