EU/3/20/2310 - orphan designation for treatment of retinitis pigmentosa
Adeno-associated virus serotype 2/8 vector containing the human PDE6A gene
OrphanHuman
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Overview
On 21 August 2020, orphan designation EU/3/20/2310 was granted by the European Commission to Institute for Ophthalmic Research, Germany, for adeno-associated virus serotype 2/8 vector containing the human PDE6A gene for the treatment of retinitis pigmentosa.
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 approximately 2.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 114,000 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).
*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, Iceland, Liechtenstein, Norway and the United Kingdom. This represents a population of 519,200,000 (Eurostat 2020).
At the time of designation, no satisfactory methods were authorised in the EU for the treatment of retinitis pigmentosa caused by mutations in the PDE6A gene. The medicine Luxturna was authorised in the EU for the treatment of retinitis pigmentosa caused by mutations in a different gene. 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 of the causes of retinitis pigmentosa is a mutation (change) in the PDE6A gene, which is responsible for the production of a component of an enzyme (phosphodiesterase 6) needed for the normal functioning of retinal cells. In patients with this form of the disease, the enzyme cannot be properly formed and, as a result, does not function properly.
The medicine consists of a virus that contains a normal copy of the PDE6A gene. When injected into the patient's eye, under the retina, it is expected that the virus will carry the PDE6A gene into the retinal cells, enabling them to produce the missing component of the phosphodiesterase 6 enzyme. This is then expected to help the cells in the retina to function better, reducing progression of the disease.
The virus used in this medicine (adeno-associated virus) does not cause disease in humans.
The effects of adeno-associated virus serotype 2/8 vector containing the human PDE6A gene have been evaluated in experimental models.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with retinitis pigmentosa had started.
At the time of submission, the medicine was not authorised anywhere in the EU for the treatment of retinitis pigmentosa or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 16 July 2020, 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
- Adeno-associated virus serotype 2/8 vector containing the human PDE6A gene
- Intended use
- Treatment of retinitis pigmentosa
- Orphan designation status
- Positive
- EU designation number
- EU/3/20/2310
- Date of designation
- Sponsor
Institute For Ophthalmic Research
Elfriede-Aulhorn-Strasse 7
Nordstadt
72076 Tuebingen
Germany
Tel: + 4970712984920
E-mail: nadine.kahle@med.uni-tuebingen.de
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing 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: