EU/3/12/1046 - orphan designation for treatment of fragile X syndrome

Mavoglurant 
OrphanHuman

Overview

Please note that this product was withdrawn from the Union Register of orphan medicinal products in October 2023 on request of the Sponsor.

On 10 October 2012, orphan designation (EU/3/12/1046) was granted by the European Commission to Novartis Europharm Limited, United Kingdom, for mavoglurant for treatment of fragile-X syndrome.

The sponsorship was transferred to Novartis Europharm Limited - Ireland, in May 2018.

Fragile-X syndrome is a genetic disease characterised by moderate to severe mental retardation. Other symptoms include social withdrawal, 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 FMRP and this leads to the mental retardation and other neurological symptoms. Men are usually more severely affected than women as they have only one X chromosome.

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 in 10,000 people in the European Union (EU)*. This is equivalent to a total of about 101,000 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 27), Norway, Iceland and Liechtenstein. This represents a population of 506,300,000 (Eurostat 2011).

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 on the risk of passing the condition on to children was recommended for families with a history of fragile-X syndrome.

Mavoglurant is expected to block certain receptors in the brain called 'metabotropic glutamate receptors 5 (mGluR5)'. These receptors are thought to be involved in helping maintain the correct functioning of brain cells. FMRP normally acts as a 'brake' to control the activity of mGluR5. When FMRP is missing in fragile-X patients, there is excessive activity of mGluR5, which is thought to contribute to the disease. By reducing the activity of these receptors, mavoglurant is expected to help reduce the severity of the disease symptoms.

The effects of mavoglurant have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with mavoglurant in patients with fragile-X syndrome were ongoing.

At the time of submission, mavoglurant was not authorised anywhere in the EU for fragile-X syndrome. Orphan designation for fragile-X syndrome had been granted in the United States of America for this condition.

In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 5 September 2012 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.

EU/3/12/1046: Public summary of opinion on orphan designation: Mavoglurant for treatment of fragile-X syndrome

Reference Number: EMA/COMP/613861/2012 Rev. 1

English (EN) (113.98 KB - PDF)

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Key facts

Active substance
Mavoglurant 
Intended use
Treatment of fragile X syndrome
Orphan designation status
Withdrawn
EU designation number
EU/3/12/1046
Date of designation
Sponsor

Novartis Europharm Limited

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:

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