On 28 April 2016, orphan designation (EU/3/16/1641) was granted by the European Commission to ProQR Therapeutics IV BV, the Netherlands, for antisense oligonucleotide complementary to the exonic splicer enhancer sequence at intron 26 of the centrosomal protein 290 pre-mRNA (also known as QR-110) for the treatment of Leber's congenital amaurosis.
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 progressive loss of vision.
At the time of designation, Leber's congenital amaurosis affected approximately 0.4 in 10,000 people in the European Union (EU). This was equivalent to a total of around 21,000 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 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 the most common mutations that cause Leber's congenital amaurosis. As a result of these mutations, patients produce a 'short' CEP290 protein which cannot work properly. CEP290 has an important role in the development of the light-sensitive cells in the eye.
This medicine is an 'antisense oligonucleotide', a short piece of genetic material that is expected to make the CEP290 gene produce adequate levels of the CEP290 protein of normal length. It is expected to do so by allowing the correct cutting ('splicing') of CEP290 that serves as the 'template' for the CEP290 protein. This is expected to lead to an increased production of the normal-length CEP290 protein, thus allowing the light sensitive cells in the eye to develop properly.
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, 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 23 March 2016 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.
Laboratoires Thea
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
| Date | Update |
|---|---|
| April 2024 | The sponsorship was transferred from ProQR Therapeutics IV B.V. to Laboratoires Thea |
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: