EU/3/07/486

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Orphan designation

On 14 November 2007, orphan designation (EU/3/07/486) was granted by the European Commission to Centre Hospitalier Universitaire de Nantes, France, for adenovirus associated viral vector serotype 4 containing the human RPE65 gene for treatment of retinitis pigmentosa.

What is retinitis pigmentosa?

Retinitis pigmentosa is a genetic disorder, characterised by progressive loss of sight. Approximately 2% of patients affected by retinitis pigmentosa have a defective RPE65 gene, and thus do not produce the RPE65 protein in the cells in the eye. RPE65 protein normally helps the function of photoreceptors that are the light receiving cells in the eye needed for the eyesight. Retinitis pigmentosa is chronically debilitating, due to progressive loss of vision.

What are the methods of treatment available?

At the time of submission of the application for orphan designation, no satisfactory method had been authorised in the European Union for the treatment of the condition. Treatment of patients with retinitis pigmentosa primarily involved genetic counselling, and general support such as information and regular medical follow up.

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

Based on the information provided by the sponsor and previous knowledge of the Committee, retinitis pigmentosa was considered to affect approximately 2.9 in 10,000 persons in the European Union, which, at the time of designation, corresponded to about 144,000 persons.

*Disclaimer: For the purpose of the designation, the number of patients affected by the condition is estimated and assessed based on data from the European Union (EU 27), Norway, Iceland and Lichtenstein. This represents a population of 498,000,000 (Eurostat 2006). This estimate is based on available information and calculations presented by the sponsor at the time of the application.

How is this medicinal product expected to act?

Adenovirus associated viral vector serotype 4 containing the human RPE65 gene is a medicinal product which uses a virus to carry the gene necessary for the production of the protein RPE65. A virus is a small organism capable of introducing genetic material in cells. By doing this the virus will introduce the gene in the cells where the gene for protein RPE65 is lacking and then the cells infected by the virus will start producing the protein. The type of virus (adeno-associated virus) used in this medicinal product is modified to avoid causing disease in humans.

What is the stage of development of this medicinal product?

The evaluation of the effects of adenovirus associated viral vector serotype 4 containing the human RPE65 gene in experimental models is ongoing.

At the time of submission of the application for orphan designation, no clinical trials in patients with retinitis pigmentosa had been initiated.

Adenovirus associated viral vector serotype 4 containing the human RPE65 gene was not authorised anywhere in the world for retinitis pigmentosa or designated as orphan medicinal product elsewhere for this condition, at the time of submission.

According to Regulation (EC) No 141/2000 of 16 December 1999, the Committee for Orphan Medicinal Products (COMP) adopted on 12 September 2007 a positive opinion recommending the grant of the above-mentioned designation.

Opinions on orphan medicinal products designations are based on the following cumulative criteria:
  • the seriousness of the condition,
  • the existence or not of alternative methods of diagnosis, prevention or treatment and 
  • either the rarity of the condition (considered to affect not more than five in ten thousand persons in the Community) or the insufficient return of development investments.

Designated orphan medicinal products are still investigational products which were considered for designation on the basis of potential activity. An orphan designation is not a marketing authorisation. As a consequence, demonstration of the quality, safety and efficacy will be necessary before this product can be granted a marketing authorisation.

Key facts

Product details for <p>Adenovirus associated viral vector serotype 4 containing the human RPE65 gene</p>
Active substanceAdenovirus associated viral vector serotype 4 containing the human RPE65 gene
Medicine Name
Disease/conditionTreatment of retinitis pigmentosa
Date of decision13/11/2007
OutcomePositive
Orphan decision numberEU/3/07/486

Review of designation

Sponsor’s contact details:

Centre Hospitalier Universitaire de Nantes
5 allée de l'île Gloriette
44093 Nantes, Cedex 1
France
Telephone: + 33 2 53 48 28 35
Telefax: + 33 2 53 48 28 36
E-mail: louis-marie.bachelot@alcimed.com

Patients’ associations contact points:

BRPS: British Retinitis Pigmentosa Society 
PO Box 350
Buckingham MK18 1GZ
United Kingdom
Telephone: +44 12 80 82 13 34
Telefax: +44 12 80 81 59 00
E-mail: info@brps.org.uk

IRRP : Association Information Recherche sur la Rétinite Pigmentaire 53 Rue de la République
30160 Bessèges
France
Telephone: +33 4 66 55 78 95
Telefax: +33 4 66 55 78 95
E-mail: irrp@libertysurf.fr

AARPCV : Asociación de Afectados por Retinosis Pigmentaria de la Comunidad Valenciana
Av. Barón de Cárcer 48 - 7º - J
46001 Alicante
Spain
Telephone: +34 963 51 17 35
Telefax: +34 963 38 22 15
E-mail: valenciarp@terra.es