EU/3/11/929

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Orphan designation

On 9 December 2011, orphan designation (EU/3/11/929) was granted by the European Commission to Fondazione Telethon, Italy, for adeno-associated viral vector serotype 8 containing the human AIPL1 gene for the treatment of Leber’s congenital amaurosis type 4.

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 type 4?

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 type 4 is caused by a defect in the gene AIPL1.

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

What is the estimated number of patients?

At the time of designation, Leber’s congenital amaurosis type 4 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).


*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. At the time of designation, this represented a population of 507,700,000 (Eurostat 2011).

What treatments are available?

At the time of submission of the application for orphan 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 children and regular medical follow up.

How is this medicine expected to work?

The 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, enabling the cells to develop normally and thereby help 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?

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 Leber’s congenital amaurosis type 4 had been started.

At the time of submission, the medicinal product was not authorised anywhere in the EU for Leber’s congenital amaurosis type 4 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 7 October 2011 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>Adeno-associated viral vector serotype 8 containing the human <em>AIPL1</em> gene</p>
Active substanceAdeno-associated viral vector serotype 8 containing the human AIPL1 gene
Medicine Name-
Disease/conditionTreatment of Leber’s congenital amaurosis type 4
Date of decision09/12/2011
OutcomePositive
Orphan decision numberEU/3/11/929

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

Fondazione Telethon
Via dei Magazzini Generali 18/20
00154 Roma
Italy
Tel. +39 06 44 01 51
Fax +39 06 44 20 20 32
E-mail: info@telethon.it

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.