EU/3/16/1796 - orphan designation for treatment of retinitis pigmentosa
adeno-associated viral vector serotype 8 encoding engineered rhodopsin DNA-binding repressor and human rhodopsin expression cassettes
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Overview
On 12 December 2016, orphan designation (EU/3/16/1796) was granted by the European Commission to Fondazione Telethon, Italy, for adeno-associated viral vector serotype 8 encoding engineered rhodopsin DNA-binding repressor and human rhodopsin expression cassettes 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 2.3 in 10,000 people in the European Union (EU). This was equivalent to a total of around 118,000 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 28), Norway, Iceland and Liechtenstein. This represents a population of 513,700,000 (Eurostat 2016).
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 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 gene responsible for the production of a protein called rhodopsin, which is essential for the normal functioning of retinal cells. These mutations lead to the production of a faulty rhodopsin protein.
This medicine is made of a virus that has been modified to include two genes. One gene is responsible for the production of a protein that blocks the patient's mutated rhodopsin gene. The other gene is responsible for the production of normal rhodopsin. When the medicine is injected into the eye, the virus is expected to carry these genes into the cells of the eye so that only normal rhodopsin is produced.
The virus used in this medicine (adeno-associated virus) does not cause disease in humans.
At the time of submission of the application for orphan designation, the evaluation of the effects of this medicine in experimental models was ongoing.
At the time of submission of the application for orphan designation, no clinical trials with the medicine in patients with retinitis pigmentosa had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for retinitis pigmentosa 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 4 November 2016 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 viral vector serotype 8 encoding engineered rhodopsin DNA-binding repressor and human rhodopsin expression cassettes
- Intended use
- Treatment of retinitis pigmentosa
- Orphan designation status
- Positive
- EU designation number
- EU/3/16/1796
- Date of designation
- Sponsor
Fondazione Telethon Ets
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Update history
| Date | Update |
|---|---|
| November 2022 | The sponsor's name was changed from Fondazione Telethon to Fondazione Telethon Ets in November 2022. |
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: