EU/3/15/1518 - orphan designation for treatment of retinitis pigmentosa
adenovirus-associated viral vector serotype 2 containing the human RPE65 gene (voretigene neparvovec)
OrphanHuman
Overview
This medicine is now known as voretigene neparvovec.
On 28 July 2015, orphan designation (EU/3/15/1518) was granted by the European Commission to Alan Boyd Consultants Ltd, United Kingdom, for adenovirus-associated viral vector serotype 2 containing the human RPE65 gene for the treatment of retinitis pigmentosa.
The sponsorship was transferred to Spark Therapeutics Ireland Ltd, in March 2017.
Adenovirus-associated viral vector serotype 2 containing the human RPE65 gene in the amended indication treatment of inherited retinal dystrophies has been authorised in the EU as Luxturna since 22 November 2018.
The sponsorship was transferred to Novartis Europharm Limited, Ireland, in February 2019.
Retinitis pigmentosa is a group of hereditary diseases of the eye that lead to progressive loss of sight. In patients with retinitis pigmentosa, cells in the retina (the light-sensitive surface at the back of the eye) become damaged and eventually die.
Retinitis pigmentosa is a long-term debilitating disease because it causes the patient's sight to get worse, eventually leading to blindness.
At the time of designation, retinitis pigmentosa affected less than 3.7 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 190,000 people*, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased 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 28), Norway, Iceland and Liechtenstein. This represents a population of 512,900,000 (Eurostat 2015).
At the time of designation, no satisfactory methods were authorised in the EU for treating retinitis pigmentosa. Patients with the condition were given sunglasses to slow down the damage to the retina, genetic counselling (discussion of the risks of passing the condition on to children) and general support.
One form of retinitis pigmentosa is caused by mutations (changes) in the RPE65 gene which is responsible for the production of an enzyme, called all-trans retinyl isomerase, that is necessary for the normal functioning of retinal cells. In patients with this form of the disease this enzyme is lacking.
The medicine consists of a virus that contains normal copies of the RPE65 gene. When injected into the eye, under the retina, it is expected that the virus carries the RPE65 gene into the retinal cells, enabling them to produce the missing enzyme. This is then expected to help the cells in the retina to function better, reducing symptoms of the condition.
The type of virus used in this medicine (adeno-associated virus) does not cause disease in humans.
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 retinitis pigmentosa were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for retinitis pigmentosa. Orphan designation had been granted in the United States for treatment of retinitis pigmentosa due to autosomal recessive RPE65 gene mutations.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 18 June 2015 recommending the granting of this designation.
- 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
- Active substance
- adenovirus-associated viral vector serotype 2 containing the human RPE65 gene (voretigene neparvovec)
- Medicine name
- Luxturna
- Intended use
- Treatment of retinitis pigmentosa
- Orphan designation status
- Positive
- EU designation number
- EU/3/15/1518
- Date of designation
- Sponsor
Novartis Europharm Limited
Review of designation
The Committee for Orphan Medicinal Products reviewed the orphan designation of Luxturna at the time of marketing authorisation, and confirmed that the orphan designation should be maintained.
More information is available in the Luxturna : Orphan maintenance assessment report (initial authorisation)
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
Patients' organisations
For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.
EU register of orphan medicines
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: