On 22 October 2007, orphan designation (EU/3/07/484) 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 Leber's congenital amaurosis.
- What is Leber's congenital amaurosis?
Leber's congenital amaurosis is an inherited disease characterised by progressive loss of sight. Approximately 6% of patients affected by Leber's congenital amaurosis have a defective RPE65 gene, and thus do not produce the RPE65 protein in the cells in the eye. Leber's congenital amaurosis 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 treatment of the condition. Patients with Leber's congenital amaurosis usually receive genetic counselling and general support such as information and regular medical follow up.
- What is the estimated number of patients affected by the condition*?
According to the information provided by the sponsor, Leber's congenital amaurosis was considered to affect less than 50,000 persons in the European Union.
* 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 that 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 into cells. 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 Leber's congenital amaurosis had been initiated.
Adenovirus associated viral vector serotype 4 containing the human RPE65 gene was not authorised anywhere in the world for Leber's congenital amaurosis 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.
|Name||Language||First published||Last updated|
|EU/3/07/484: Public summary of positive opinion for orphan designation of adenovirus associated viral vector serotype 4 containing the human RPE65 gene for treatment of Leber's congenital amaurosis||(English only)||22/01/2008|
|Active substance||Adenovirus associated viral vector serotype 4 containing the human RPE65 gene|
|Disease/condition||Treatment of leber's congenital amaurosis|
|Date of decision||22/10/2007|
|Orphan decision number||EU/3/07/484|
Review of designation
Sponsor’s contact details:
Centre Hospitalier Universitaire de Nantes
5 allée de l'île Gloriette
44093 Nantes, Cedex 1
Telephone: + 33 2 53 48 28 35
Telefax: + 33 2 53 48 28 36
Patients’ associations contact points:
NICMD: The National Information Centre for Metabolic Diseases
176 Nantwich Road
Crewe CW2 6BG
Telephone: +44 845 241 2174
Telefax: +44 845 241 2174
AARPCV: Asociación de Afectados por Retinosis Pigmentaria de la Comunidad Valenciana
Av. Barón de Cárcer 48 - 7º - J
46001 ALICANTE Alicante
Telephone: +34 963 511 735
Telefax: +34 963 382 215
SOS Rétinite - Association Nationale de Lutte contre la Cécité- Reconnue d'utilité publique
276 Impasse de la Baume
Telephone: +33 4 67 65 06 28
Telefax: +33 4 67 22 43 47