6 January 2017 EMA/741007/2016 Committee for Orphan Medicinal Products
Public summary of opinion on orphan designation Metformin for the treatment of progressive myoclonic epilepsy type 2 (Lafora disease)
On 12 December 2016, orphan designation (EU/3/16/1803) was granted by the European Commission to Centro de Investigación Biomédica en Red (CIBER), Spain, for metformin for the treatment of progressive myoclonic epilepsy type 2 (Lafora disease).
What is Lafora disease? Lafora disease is an inherited brain disease marked by epileptic fits and worsening intellectual function. Patients usually have their first fit between 10 and 20 years of age. This is followed by worsening of the functioning of the brain and spinal cord, which causes severe epilepsy, difficulty walking, depression and dementia, and eventually leads to death. Lafora disease is caused by a fault in one of two genes called EPM2A or EPM2B. Lafora disease is a debilitating and life-threatening disease that usually leads to death within 10 years of diagnosis.
What is the estimated number of patients affected by the condition? At the time of designation, Lafora disease affected approximately 0.01 in 10,000 people in the European Union (EU). This was equivalent to a total of around 500 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).
What treatments are available? At the time of designation, no satisfactory methods were authorised in the EU for treating Lafora disease. Medicines to control seizures were given, but their effectiveness was limited and did not last long, and they did not stop the disease from getting worse.
*
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).
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How is this medicine expected to work? Metformin blocks production of glucose (a sugar) and has been used in the treatment of type 2 diabetes since the 1960s. The way it works in Lafora disease is not clear, however, it is thought to protect brain function possibly by increasing the action of an enzyme called AMP-activated protein kinase (AMPK). AMPK regulates the energy balance of cells including brain cells.
What is the stage of development of this medicine? The effects of metformin have been evaluated in experimental models. At the time of submission of the application for orphan designation, no clinical trials with metformin in patients with Lafora disease had been started. At the time of submission, metformin was not authorised anywhere in the EU for Lafora disease or designated as an orphan medicinal product elsewhere for this condition.
In accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 4 November 2016 recommending the granting of this designation.
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Opinions on orphan medicinal product designations are based on the following three criteria: •
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.
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For more information Sponsor’s contact details:
Contact details of the current sponsor for this orphan designation can be found on EMA website, on the medicine’s rare disease designations page.
For contact details of patients’ organisations whose activities are targeted at rare diseases see: •
Orphanet, a database containing information on rare diseases, which includes a directory of patients’ organisations registered in Europe;
•
European Organisation for Rare Diseases (EURORDIS), a non-governmental alliance of patient organisations and individuals active in the field of rare diseases.
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Translations of the active ingredient and indication in all official EU languages 1, Norwegian and Icelandic Language
Active ingredient
Indication
English
Metformin
Treatment of progressive myoclonic epilepsy type 2 (Lafora disease)
Bulgarian
Метформин
Лечение на прогресивна миоклонична епилепсия тип 2 (болест на Лафора)
Croatian
Metformin
Liječenje progresivne mioklone epilepsije tipa 2 (oboljenje Lafora)
Czech
Metformin
Léčba progresivní myoklonické epilepsie typu 2 (Laforova choroba)
Danish
Metformin
Dutch
Metformine
Behandling af type 2 progressiv myoklonepilepsi (Laforas sygdom) Behandeling van progressieve myoclonische epilepsie type 2 (ziekte van Lafora)
Estonian
Metformiin
II tüübi progresseeruva müokloonusepilepsia (Lafora tõve) ravi
Finnish
Metformiini
Tyypin 2 progressiivisen myokloonisen epilepsian hoito (Laforan sairaus)
French
Metformine
Traitement de l´épilepsie myoclonique progressive type 2 (maladie de Lafora)
German
Metformin
Greek
Μετφορμίνη
Hungarian
Metformin
Behandlung von progressiver Myoklonusepilepsie Typ 2 (Lafora Krankheit) Θεραπεία της προοδευτικής μυοκλονικής επιληψίας τύπου ΙΙ (νόσος Lafora) A progresszív myoclonusos epilepszia 2-es típusának (Laforabetegség) kezelése
Italian
Metformina
Trattamento dell´epilessia mioclonica progressiva tipo 2 (malattia di Lafora)
Latvian
Metformīns
2. tipa progresīvas miokloniskas epilepsijas (Lafora slimības) ārstēšana
Lithuanian
Metforminas
Maltese
Metformina
Polish
Metformina
Progresuojančios 2 tipo miokloninės epilepsijos gydymas (Lafora liga) Trattament ta' epilessija mijoklonika progressiva tat-tip 2 (marda tal-Lafora) Leczenie postępującej padaczki mioklonicznej typu II (choroba Lafora)
Portuguese
Metformina
Tratamento da epilepsia mioclónica progressiva tipo 2 (doença de Lafora)
Romanian
Metformină
Tratamentul epilepsiei mioclonice progresive de tip 2 (boala Lafora)
Slovak
Metformín
Liečba progresívnej myoklonickej epilepsie typu 2 (Laforova choroba)
1
At the time of designation
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Language
Active ingredient
Indication
Slovenian
Metformin
Zdravljenje progresivne mioklonične epilepsije tipa 2 (Lafora bolezen)
Spanish
Metformina
Tratamiento de la epilepsia mioclónica progresiva de tipo 2 (Enfermedad de Lafora)
Swedish
Metformin
Behandling av progressiv myoklon epilepsi typ 2 (Laforas sjukdom)
Norwegian
Metformin
Icelandic
Metformín
Behandling av progressiv myoklonus epilepsi type 2 (Laforas sykdom) Meðferð við ágengri vöðvakippaflogaveiki af tegund 2 (Lafora sjúkdómi)
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