EU/3/18/2016 - orphan designation for treatment of neuronal ceroid lipofuscinosis
adeno-associated viral vector serotype 9 containing the human CLN1 gene
OrphanHuman
Overview
On 25 May 2018, orphan designation (EU/3/18/2016) was granted by the European Commission to Abeona Therapeutics Europe SL, Spain, for adeno-associated viral vector serotype 9 containing the human CLN1 gene for the treatment of neuronal ceroid lipofuscinosis.
The sponsorship was transferred to Raremoon Consulting Esp S.L., Spain, in November 2020.
Neuronal ceroid lipofuscinosis is a group of inherited diseases where deposits known as lipofuscins made of fats and proteins build up in the brain and other parts of the body, such as the eye, causing damage. Symptoms of the disease include delayed speech, inability to coordinate muscle movements, fits, loss of vision and mental disability.
Neuronal ceroid lipofuscinosis is a debilitating and life-threatening condition that leads to death by early adulthood.
At the time of designation, neuronal ceroid lipofuscinosis affected approximately 0.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 10,000 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 517,400,000 (Eurostat 2018).
At the time of designation, the medicine Brineura was authorised in the EU for the treatment of neuronal ceroid lipofuscinosis type 2. Brineura replaces the TPP1 enzyme (one of several enzymes whose absence can lead to lipofuscin build-up) which is missing in this form of the disease. The disease was also managed by treating its symptoms.
The sponsor has provided sufficient information to show that the medicine might be of significant benefit for patients with neuronal ceroid lipofuscinosis because laboratory data show that it may improve survival and movement skills of patients with neuronal ceroid lipofuscinosis type 1, for whom no treatment exists. This assumption will need to be confirmed at the time of marketing authorisation, in order to maintain the orphan status.
This medicine is expected to be used in patients with neuronal ceroid lipofuscinosis type 1. These patients have mutations (changes) in the CLN1 gene that is responsible for the production of an enzyme called PPT1 needed for proper breakdown of proteins in the body. As a result, the PPT1 enzyme does not work properly, leading to build-up of lipofuscins. Because a different enzyme is involved, patients with type 1 disease cannot be treated with Brineura.
This medicine is made of a virus that contains normal copies of the CLN1 gene. When injected into the patient, it is expected that the virus will be carried into the nerve cells enabling them to start producing a working PPT1 enzyme. This is expected to relieve the symptoms of the disease.
The type of virus used in this medicine ('adeno-associated virus') does not cause disease in humans.
The effects of this 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 neuronal ceroid lipofuscinosis had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for neuronal ceroid lipofuscinosis. Orphan designation of the medicine had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 19 April 2018 recommending the granting of this designation.
- 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.
Key facts
- Active substance
- adeno-associated viral vector serotype 9 containing the human CLN1 gene
- Intended use
- Treatment of neuronal ceroid lipofuscinosis
- Orphan designation status
- Positive
- EU designation number
- EU/3/18/2016
- Date of designation
- Sponsor
Raremoon Consulting Esp S.L.
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
EMA list of opinions on orphan medicinal product designation
EMA publishes information on orphan medicinal product designation adopted by the Committee for Orphan Medicinal Products (COMP) on the IRIS online platform:
Patients' organisations
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.
EU register of orphan medicines
The list of medicines that have received an orphan designation in the EU is available on the European Commission's website: