EU/3/13/1099

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Orphan designation

On 8 February 2013, orphan designation (EU/3/13/1099) was granted by the European Commission to TMC Pharma Services Ltd, United Kingdom, for recombinant adeno-associated viral vector containing the human CNGB3 gene for the treatment of achromatopsia caused by mutations in the CNGB3 gene.

What is achromatopsia?

Achromatopsia is an inherited disease of the eye that leads to reduced visual acuity (how well a person can see), colour blindness, severe photophobia (increased sensitivity to light) and nystagmus (fast involuntary eye movements). In patients with achromatopsia, cells in the retina (the light-sensitive surface at the back of the eye) called ‘cone photoreceptors’, which provide vision in bright light including colour vision, do not function normally.

Achromatopsia is often caused by mutations (defects) in the CNGB3 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 CNGB3 gene affected approximately 0.15 in 10,000 people in the European Union (EU). This was equivalent to a total of around 7,600 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 509,000,000 (Eurostat 2013).

What treatments are available?

At the time of designation, no satisfactory methods were authorised in the EU for treating achromatopsia caused by mutations in the CNGB3 gene. Patients with the condition were given sunglasses to reduce light sensitivity, as well as low vision aids such as magnifiers for reading.

How is this medicine expected to work?How is this medicine expected to work?

In this disease, a protein involved in the normal functioning of cone photoreceptors, called the CNGB3 protein, is lacking due to defects in the gene responsible for producing it. The medicine is made up of a virus that contains normal copies of the CNGB3 gene. When injected into the patient’s eyes, it is expected that the virus will carry the CNGB3 gene into photoreceptor cells, so that the CNGB3 protein can be produced. This is expected to enable cone photoreceptors to work properly, thereby preventing the 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?

At the time of submission of the application for orphan designation, the evaluation of the effects of the medicine in experimental models was ongoing.

At the time of submission, no clinical trials with the medicine in patients with achromatopsia caused by mutations in the CNGB3 gene had been started.

At the time of submission, the medicine was not authorised anywhere in the EU for achromatopsia caused by mutations in the CNGB3 gene. Orphan designation of the medicine had 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 9 January 2013 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>Recombinant adeno-associated viral vector containing the human CNGB3 gene</p>
Active substanceRecombinant adeno-associated viral vector containing the human CNGB3 gene
Medicine Name
Disease/conditionTreatment of achromatopsia caused by mutations in the CNGB3 gene
Date of decision08/02/2013
OutcomePositive
Orphan decision numberEU/3/13/1099

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

TMC Pharma Services Ltd
Lodge Farm Barn
Elvetham Park Estate
Fleet Road
Hartley Wintney
Hampshire
RG27 8AS
United Kingdom
Tel. +44 (0)1252 842255
Fax +44 (0)1252 842277
E-mail: info@tmcpharma.com

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.