EU/3/08/612

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Orphan designation

On 11 February 2009, orphan designation (EU/3/08/612) was granted by the European Commission to ProRetina Therapeutics S.L., Spain, for recombinant human proinsulin for the treatment of retinitis pigmentosa.

What is retinitis pigmentosa?

Retinitis pigmentosa is a genetic (hereditary) disease of the eye that leads to progressive loss of sight. In patients with retinitis pigmentosa, some 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 the patient’s sight becomes progressively worse and eventually leads to blindness.

What is the estimated number of patients affected by the condition?

At the time of designation retinitis pigmentosa affected approximately 2.9 in 10,000 people in the European Union (EU)*. This is below the threshold for orphan designation, which is 5 in 10,000, and is equivalent to a total of around 145,700 people. This is based on the information provided by the sponsor and 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 based on data from the European Union (EU 27), Norway, Iceland and Liechtenstein. This represents a population of 502,282,000 (Eurostat 2008).

What treatments are available?

At the time of submission of the application for orphan designation, no satisfactory methods were authorised in the EU for treating the condition. Patients with retinitis pigmentosa were given genetic counselling (discussion of the risk of passing the condition on to children), and general support such as information and regular medical follow-up.

How is this medicine expected to work?

Proinsulin is a precursor of insulin. This means that recombinant human proinsulin is converted into insulin in the body. Insulin is the hormone that regulates blood sugar levels. However, it can also block cell death. When injected directly into the eyes of patients with retinitis pigmentosa, recombinant human proinsulin is expected to help reduce cell death in the retina, slowing down or preventing the loss of sight.

Recombinant human proinsulin is produced by a method known as ‘recombinant DNA technology’: it is made by a bacterium that has received a gene in the form of DNA which makes it able to produce human proinsulin.

What is the stage of development of this medicine?

The effects of recombinant human proinsulin have been evaluated in experimental models.

At the time of submission of the application for orphan designation, no clinical trials in patients with retinitis pigmentosa had been started.

At the time of submission, recombinant human proinsulin was not authorised anywhere in the world 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 10 December 2008 recommending the granting of this designation.

Opinions on orphan medicinal product designations are based on the following three criteria:
  • 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 Community) 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 marketing authorisation.

Key facts

Product details for <p>Recombinant human proinsulin</p>
Active substanceRecombinant human proinsulin
Medicine Name
Disease/conditionTreatment of retinitis pigmentosa
Date of decision10/02/2009
OutcomePositive
Orphan decision numberEU/3/08/612

Review of designation

Sponsor’s contact details:

ProRetina Therapeutics, S.L.
Pza Cein, 5 
Despacho T5 
31110 Noáin (Navarra)
Spain
Telephone: +34 94 83 17 345
Telefax: +34 94 83 16 858
E-mail: proretina@metasbio.com

Patients’ associations contact points:

Pro Retina Deutschland e.V.
Vaalser Straße 108
52074 Aachen
Germany
Telephone: +49 241 87 00 18
Telefax: +49 241 87 39 61
E-mail: Pro-Retina@t-online.de

British Retinitis Pigmentosa Society
PO Box 350
Buckingham MK18 1GZ
United Kingdom
Telephone: +44 1280 821 334
Telefax: +44 1280 815 900
E-mail: info@brps.org.uk

IRRP - Association Information Recherche sur la Rétinite Pigmentaire
53 Rue de la République
30160 Besseges
France
Telephone: +33 4 66 25 13 54
Telefax: +33 4 66 25 13 54
E-mail: contact@irrp.asso.fr