EU/3/15/1534 - orphan designation for treatment of Rett syndrome
Glycyl-L-2-methylprolyl-L-glutamic acid
OrphanHuman
Overview
On 10 August 2015, orphan designation (EU/3/15/1534) was granted by the European Commission to QRC Consultant Ltd., United Kingdom, for glycyl-L-2-methylprolyl-L-glutamic acid for the treatment of Rett syndrome.
The sponsorship was transferred to DLRC Pharma Services Ltd, Ireland, in February 2019.
Rett syndrome is a genetic disease characterised by intellectual disability as well as by loss of speech and regression of acquired skills between 6 and 18 months of age. Other symptoms include difficulty breathing, irregular heartbeat, a gradual loss of the ability to move, feeding difficulties, sleeping problems, constipation, repetitive hand movements and seizures (fits).
The syndrome is caused by abnormalities in the MECP2 gene, which is important for the normal functioning of nerve cells. This gene is in the X chromosome, one of the two chromosomes (X and Y) that determine the gender. Rett syndrome is seen almost exclusively in girls (who have two X chromosomes), as the male babies (who have only one X chromosome) do not usually survive. Although the disease is genetic, most girls affected (over 95%) do not inherit it from their parents.
Rett syndrome is a seriously debilitating and life-threatening disease mainly because of problems with breathing and the heart rhythm.
At the time of designation, Rett syndrome affected approximately 0.5 in 10,000 people in the European Union (EU). This was equivalent to a total of around 26,000 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 treating Rett syndrome. Girls with the disease were given physiotherapy, speech therapy and nutritional support to help relieve the symptoms of the disease. Medicines to control seizures were also used, as well as laxatives and painkillers.
This medicine is made up of a molecule derived from a protein in the body called insulin-like growth factor 1 (or IGF-1), which is important for the correct development and functioning of the nervous system. In Rett syndrome, IGF-1 in the brain is lower than normal and it is thought that nerve function is affected as a result. This medicine is expected to restore IGF-1 activity in the brain, thus restoring normal functioning of brain cells and improving the symptoms of the disease.
The effects of the medicine have been evaluated in experimental models.
At the time of submission of the application for orphan designation, a clinical trial with the medicine in patients with Rett syndrome had been completed.
At the time of submission, the medicine was not authorised anywhere in the EU for Rett 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 16 July 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 Rett syndrome
- Orphan designation status
- Positive
- EU designation number
- EU/3/15/1534
- 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: