On 19 March 2015, orphan designation (EU/3/15/1462) was granted by the European Commission to Universitätsklinikum Tübingen, Germany, for sodium 3-[(4aR,6R,7R,7aS)-7-hydroxy-2-oxido-2-sulfanylidene-4a,6,7,7a-tetrahydro-4H-furo [3,2-d][1,3,2] dioxaphosphinin-6-yl]-2-bromo-6-phenyl-5H-imidazo[1,2-a]purin-9-one 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 worsen over time, 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 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 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 and genetic counselling on the risks of passing the condition on to children.
In some patients with retinitis pigmentosa genetic defects lead to an increase in levels of a chemical called cGMP which causes toxicity and can lead to the death of retinal cells.
This medicine is expected to work against cGMP by blocking the action of an enzyme called protein kinase G, through which cGMP exerts its action. By attaching to and blocking protein kinase G, the medicine is expected to help reduce the effects of cGMP and thereby prevent death of retinal cells and improve the patient's condition.
The effects of the medicine 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 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 12 February 2015 recommending the granting of this designation.
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.
Universitätsklinikum Tübingen (UKT)
Geissweg 3
72076 Tübingen
Germany
Tel. +49 7071 29 87 430
Fax +49 7071 29 57 77
E-mail: francois.paquet-durand@klinikum.uni-tuebingen.de
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
For contact details of patients’ organisations whose activities are targeted at rare diseases, see:
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe.
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: