EU/3/16/1651 - orphan designation for treatment of Angelman syndrome
Recombinant adeno-associated viral vector serotype 9 carrying the gene for the human E6-AP ubiquitin protein ligase
OrphanHuman
Overview
On 28 April 2016, orphan designation (EU/3/16/1651) was granted by the European Commission to Voisin Consulting S.A.R.L., France, for recombinant adeno-associated viral vector serotype 9 carrying the gene for the human E6-AP ubiquitin protein ligase for the treatment of Angelman syndrome.
The sponsorship was transferred to PTC Therapeutics International Limited, Ireland, in December 2018.
Angelman syndrome is an inherited disorder that mainly affects the brain. It is caused by an abnormality in the gene needed to make an enzyme called E6-AP ubiquitin ligase, which is essential for normal development of the brain. Children with this condition often have delayed development, intellectual disability, severe speech impairment, problems with movement and balance, recurrent seizures (fits) and sociable behaviour with frequent smiling.
Angelman syndrome is a long-term debilitating condition due to the developmental delay, problems with movement and seizures.
At the time of designation, Angelman syndrome affected approximately 1 in 10,000 people in the European Union (EU). This was equivalent to a total of around 51,000 people*, 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).
*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 medicines were authorised in the EU for the treatment of Angelman syndrome. Available treatments were aimed at treating some of the symptoms of the disease such as medicines for epilepsy and behavioural therapy.
The medicine is made of a virus that has been modified to contain a working copy of the gene for E6?AP ubiquitin ligase. After being given once to the patient as an injection into the space around the spine, the virus is expected to carry the gene into the brain cells, enabling them to produce the missing protein for a long period. This is expected to improve the symptoms of the disorder.
The 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, no clinical trials with the medicine in patients with Angelman syndrome had been started.
At the time of submission, the medicine was not authorised anywhere in the EU for Angelman syndrome. 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 23 March 2016 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
- Recombinant adeno-associated viral vector serotype 9 carrying the gene for the human E6-AP ubiquitin protein ligase
- Intended use
- Treatment of Angelman syndrome
- Orphan designation status
- Positive
- EU designation number
- EU/3/16/1651
- Date of designation
- Sponsor
PTC Therapeutics International Limited
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: