On 23 March 2010, orphan designation (EU/3/10/727) was granted by the European Commission to Oxford BioMedica (UK) Ltd, United Kingdom, for lentiviral vector containing the human MYO7A gene for the treatment of retinitis pigmentosa in Usher syndrome 1B.
The sponsorship was transferred to Sanofi-Aventis Recherche & Développement, France, in June 2014 and to Sanofi-Aventis Groupe, France, in June 2015.
- What is retinitis pigmentosa in Usher syndrome 1B?
Retinitis pigmentosa is 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 seen in a variety of diseases, including a genetic condition known as Usher syndrome. This condition also causes other problems, including deafness.
Retinitis pigmentosa in Usher’s syndrome is a long-term debilitating disease because it causes the patient’s sight to get worse, eventually leading to blindness.
- What is the estimated number of patients affected by the condition?
At the time of designation, retinitis pigmentosa in Usher syndrome 1B affected approximately 0.1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 5,000 people*, and is below the threshold for orphan designation, which is 5 people in 10,000. 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 on the basis of data from the European Union (EU 27), Norway, Iceland and Liechtenstein. At the time of designation, this represented a population of 506,300,000 (Eurostat 2010).
- 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 retinitis pigmentosa in Usher syndrome 1B. 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.
- How is this medicine expected to work?
Retinitis pigmentosa in Usher syndrome 1B is caused by abnormalities in a gene called MYO7A. This gene is involved in the normal development of the retina. Lentiviral vector containing the human MYO7A gene is an advanced therapy medicine that belongs to the group called ‘gene therapy products’. These are medicines that work by delivering genes into the body. The medicine is made up of a virus that contains normal copies of the human MYO7A gene. When the medicine is injected into the eye, the virus is expected to carry the normal MYO7A gene into the cells of the retina, which will replace the abnormal gene in Usher syndrome 1B. This is expected to reduce or reverse the damage to retina cells, slowing down or preventing the loss of vision.
The type of virus used in this medicine (lentivirus) is modified so that it does not cause disease in humans.
- What is the stage of development of this medicine?
At the time of submission of the application for orphan designation, the evaluation of the effects of lentiviral vector containing the human MYO7A gene in experimental models was ongoing.
At the time of submission, no clinical trials with this medicine had been started in patients with retinitis pigmentosa in Usher syndrome 1B.
At the time of submission, lentiviral vector containing the human MYO7A gene was not authorised anywhere in the EU for retinitis pigmentosa in Usher syndrome 1B 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 6 January 2010 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 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.
|Name||Language||First published||Last updated|
|EU/3/10/727: Public summary of opinion on orphan designation: Lentiviral vector containing the human MYO7A gene for the treatment of retinitis pigmentosa in Usher syndrome 1B||(English only)||26/03/2010||16/10/2014|
|Active substance||Lentiviral vector containing the human MYO7A gene|
|Disease/condition||Treatment of retinitis pigmentosa in Usher syndrome 1B|
|Date of decision||23/03/2010|
|Orphan decision number||EU/3/10/727|
Review of designation
Sponsor’s contact details
54 rue de la Boétie
Tel. +33 153 774 000
Fax +33 153 774 133
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.