EU/3/19/2172 - orphan designation for treatment of Angelman syndrome
Gaboxadol monohydrate
OrphanHuman
Overview
On 28 June 2019, orphan designation EU/3/19/2172 was granted by the European Commission to FGK Representative Service GmbH, Germany, for gaboxadol monohydrate for the treatment of Angelman syndrome.
Angelman syndrome is an inherited disorder that mainly affects the nervous system (nerve cells, brain and spinal cord). It is caused by a mutation (change) in the gene needed to make the enzyme E6-AP ubiquitin ligase, which is essential for normal development of the nervous system. Children with this condition have delayed development, intellectual disability, severe speech impairment, problems with movement and balance, recurrent seizures (fits) which are often difficult to treat 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 52,000 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 518,400,000 (Eurostat 2019).
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 and included medicines for epilepsy and behavioural therapy.
It is thought that in patients with Angelman syndrome the lack of the enzyme E6-AP ubiquitin ligase leads to reduced levels of GABA, the main substance in nerve cells responsible for switching off electrical activity in the brain, leading to some of the symptoms of the disease. This medicine is expected to attach to GABAA receptors (targets) found on the surface of nerve cells as GABA would, thereby reducing some of the symptoms of the condition.
The effects of gaboxadol monohydrate have been evaluated in experimental models.
At the time of submission of the application for orphan designation, a clinical trial with gaboxadol monohydrate in patients with Angelman syndrome had been completed.
At the time of submission, gaboxadol monohydrate was not authorised anywhere in the EU for the treatment of Angelman syndrome. Orphan designation of this medicine had been granted in the United States for this condition.
In accordance with Regulation (EC) No 141/2000, the COMP adopted a positive opinion on 23 May 2019, 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
- Gaboxadol monohydrate
- Intended use
- Treatment of Angelman syndrome
- Orphan designation status
- Positive
- EU designation number
- EU/3/19/2172
- Date of designation
- Sponsor
FGK Representative Service GmbH
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:
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: