On 16 October 2017, orphan designation (EU/3/17/1928) was granted by the European Commission to Pharma Gateway AB, Sweden, for recombinant adeno-associated viral vector serotype 5 encoding Staphylococcus aureus Cas9 endonuclease and two guide RNAs complementary to two regions of intron 26 of the CEP290 gene (also known as EDIT-101) for the treatment of Leber's congenital amaurosis.
The sponsorship was transferred to Allergan Pharmaceuticals International Limited, Ireland, in July 2019 and subsequently to FGK Representative Service GmbH, Germany, in November 2020.
Please note that this product was withdrawn from the Union Register of orphan medicinal products in April 2025 on request of the Sponsor.
Leber's congenital amaurosis is an inherited disease characterised by loss of sight at birth or soon after birth. The disease is linked to a number of genetic mutations (changes), which affect the normal development of the light-sensitive cells in the eye.
Leber's congenital amaurosis is a long-term debilitating disease due to the progressive loss of sight.
At the time of designation, Leber's congenital amaurosis affected less than 1 in 10,000 people in the European Union (EU). This was equivalent to a total of fewer than 52,000 people1, and is below the ceiling for orphan designation, which is 5 people in 10,000. This isbased on the information provided by the sponsor and the knowledge of the Committee for Orphan Medicinal Products (COMP).
1Disclaimer: 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 515,700,000 (Eurostat 2017).
At the time of designation, no satisfactory methods were authorised in the EU for treating Leber's congenital amaurosis. Patients with the condition usually received regular medical follow up, vision aids and genetic counselling on the risks of passing the condition on to their children.
Mutations (changes) in the CEP290 gene are among the known mutations that cause Leber's congenital amaurosis. As a result of these mutations, patients do not produce enough of a protein called CEP290 that works properly. CEP290 has an important role in the development of the light-sensitive cells in the eye.
The medicine is made of a virus that, when injected into the eye, delivers genetic material into light-sensitive cells in the eye. This genetic material is expected to remove or modify the part of the CEP290 gene that contains the mutation. This is expected to lead to the production of a functional CEP290 protein, thus allowing the light sensitive cells in the eye to develop properly.
The type of 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 the 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 Leber's congenital amaurosis had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for Leber's congenital amaurosis 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 7 September 2017 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.
FGK Representative Service GmbH
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:
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.
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: