EU/3/15/1529 - orphan designation for treatment of fragile X syndrome
Glycyl-L-2-methylprolyl-L-glutamic acid
OrphanHuman
Overview
On 28 July 2015, orphan designation (EU/3/15/1529) was granted by the European Commission to QRC Consultants Ltd., United Kingdom, for glycyl-L-2-methylprolyl-L-glutamic acid for the treatment of fragile X syndrome.
The sponsorship was transferred to DLRC Pharma Services Ltd, Ireland, in February 2019.
Fragile X syndrome is a genetic disease characterised by moderate to severe learning disability. Other symptoms include difficulty communicating and socialising, anxiety, hyperactivity, and repetitive and stereotyped behaviours.
The disease is caused by a defect in a gene on the X chromosome. The gene is responsible for the production of a protein called fragile X mental retardation protein (FMRP), which is necessary for the development of the brain. In patients with fragile X syndrome, the defective gene cannot produce normal levels of the FMRP protein and this leads to learning disability and other neurological symptoms. Women are normally less severely affected than men, because they have a second X chromosome that usually has a normal copy of the gene.
Fragile X syndrome is a long-term debilitating disease because of the behavioural and mental health problems it causes.
At the time of designation, fragile X syndrome affected approximately 2.2 in 10,000 people in the European Union (EU). This was equivalent to a total of around 113,000 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 512,900,000 (Eurostat 2015).
At the time of designation, no satisfactory methods were authorised in the EU for the treatment of fragile X syndrome. Patients were given general support, such as behavioural therapy and special education, and in some cases, antidepressants, stimulants and antipsychotics were used to treat the symptoms of the disease. Genetic counselling (discussion of the risks of passing the condition on to children) was recommended for families with a history of fragile X syndrome.
The medicine is a modified version of a substance called glypromate. Glypromate is naturally present in the brain where it is thought to regulate the activity of two protein cascades that are believed to be affected in fragile X syndrome (the so-called PI3-Akt-mTOR and Ras-MAPK pathways), helping to protect the normal functioning of brain cells. Once given by mouth, the medicine is expected to be able to reach the brain by crossing the 'blood-brain barrier' that separates the nervous system from the bloodstream.
The effects of the medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with fragile X syndrome were ongoing.
At the time of submission, the medicine was not authorised anywhere in the EU for fragile X syndrome. Orphan designation of the medicine had been granted in the United States for fragile X syndrome.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 18 June 2015 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
- Glycyl-L-2-methylprolyl-L-glutamic acid
- Intended use
- Treatment of fragile X syndrome
- Orphan designation status
- Positive
- EU designation number
- EU/3/15/1529
- Date of designation
- Sponsor
Voisin Consulting Life Sciences
Review of designation
The Committee for Orphan Medicinal Products reviews the orphan designation of a product if it is approved for marketing authorisation.
Update history
| Date | Update |
|---|---|
| December 2023 | The sponsorship was transferred from Dlrc Pharma Services Limited to Voisin Consulting Life Sciences. |
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: