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¿Tiene el perampanel eficacia a largo plazo en pacientes con síndrome de Dravet?

Cada vez hay más práctica en el uso del perampanel para el tratamiento del síndrome de Dravet; sin embargo, todavía no se ha demostrado que se mantenga su efecto beneficioso años después del inicio del tratamiento. La Dra. Susana Boronat y su equipo nos presentan el caso de una niña de 12 años con síndrome de Dravet que recibe perampanel desde los 7 y sus efectos han sido positivos.

«El síndrome de Dravet es una encefalopatía del desarrollo con epilepsia debido a mutaciones en el gen SCN1A en su gran mayoría. Este gen codifica una subunidad del canal de sodio voltaje-dependiente de las neuronas, que es un canal esencial para la transmisión sináptica y, por tanto, para el buen funcionamiento de las conexiones neuronales en el cerebro. En concreto, una disfunción de estos canales parece afectar especialmente a las vías inhibitorias GABAérgicas, que son las que frenan la actividad excitatoria responsable del desarrollo de la epilepsia. Sin este freno a la actividad excitatoria, las crisis epilépticas serían frecuentes. La epilepsia asociada a este síndrome se trata generalmente con fármacos de amplio espectro, poco específicos de esta enfermedad, como valproato o clobazam; sin embargo, cada vez hay mayor interés en encontrar tratamientos a medida, con fármacos específicos que actúen sobre la causa que provoca la enfermedad, como podría ser el stiripentol o la fenfluramina en el caso del síndrome de Dravet.

El perampanel es un fármaco anticrisis que actúa sobre el receptor glutamatérgico AMPA, bloqueando su unión al glutamato. El glutamato es el neurotransmisor más importante de la vía excitatoria porque bloquea dicha vía. Se está demostrando cada vez más que su uso podría ser muy beneficioso en algunos pacientes con síndrome de Dravet por su mecanismo de acción específico sobre esta vía excitatoria. En la bibliografía encontramos algunas series de pacientes con epilepsias farmacorresistentes o encefalopatías del desarrollo con epilepsia, en los que parece que el perampanel puede ser eficaz, y, dentro de estas series, se ha visto que algunos de los pacientes que responden mejor a este fármaco son personas con síndrome de Dravet. Asimismo, algunos pacientes con síndrome de Dravet pueden responder de forma excelente a este tratamiento, mientras que otros no responden o incluso empeoran. Sin embargo, estas publicaciones incluyen seguimientos a corto-medio plazo, por lo que no nos ayudan a saber si, en caso de obtener este efecto beneficioso, sería mantenido en el tiempo o no.

Por ello, presentamos una paciente diagnosticada genéticamente de síndrome de Dravet, con una mutación en el exón 24 (c.4547C>A, p.Ser1516*), que inició el tratamiento con perampanel a dosis bajas (4mg) a la edad de 7 años, con una respuesta excelente que permitió control completo de las crisis espontáneas (sigue presentando crisis provocadas por fiebre o cambios de temperatura, sobre todo). Actualmente tiene 12 años y persiste dicha respuesta. En la actualidad, se está estudiando una posible relación entre el genotipo (mutación genética) de un paciente y su fenotipo (expresión clínica), y quizás esta relación podría explicar por qué algunos pacientes presenten una respuesta excelente al perampanel mientras que otros no responden o lo hacen de forma parcial. Se precisarían más estudios en el futuro que confirmen estas hipótesis».

Esta publicación ha sido escrita por la Dra. Eulalia Turon Viñas, primera autora del artículo, y editada por la Dra. Marta González, Manager de Proyectos Científicos y Comunicadora Científica de la Fundación Síndrome de Dravet.

Pincha AQUÍ para acceder al artículo científico original en inglés, publicado en acceso abierto en la prestigiosa revista «Child Neurology Open» gracias a una beca de la Fundación Síndrome de Dravet otorgada al equipo de la Dra. Susana Boronat.

Os recordamos que la CONVOCATORIA para acceder al Programa de Apoyo a las Publicaciones Científicas en Acceso Abierto de la Fundación Síndrome de Dravet («FSD Open Access Publication Support Program») sigue ABIERTA DURANTE TODO EL AÑO 2021.

¿Quieres ser tú el próximo en publicar tu investigación en síndrome de Dravet?

¡Solicita tu beca pinchando AQUÍ!

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TERMS & CONDITIONS

The European Dravet Syndrome Advanced Therapies (EDSAT) Meeting 2022 is organised by Dravet Syndrome Foundation Spain, whose registered office is located at Calle Doctor Fleming, 30, 28036 Madrid, Spain.

The conference shall take place at the Illustrious Official College of Physicians of Madrid, at Calle de Santa Isabel, 51, 28012 Madrid, Spain, on Friday 1st of April 2022. Attendance to this conference is free of charge, but mandatory for organisational reasons. Participants must register online at www.dravetconference.com. Upon registration, each participant will receive an electronic confirmation by email. On-site registration will be not be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at research@dravetfoundation.eu.

The conference registration includes: Attendance to all sessions, oral sessions and visual presentations. The conference registration includes all coffee breaks, lunch breaks, and conference documentation with all information about the event. The registration does not comprise travelling, accommodation costs or any other personal expenses.

The conference registration includes: Attendance to all sessions, oral sessions and visual presentations. The conference registration includes all coffee breaks, lunch breaks, and conference documentation with all information about the event. The registration does not include travel or accommodation costs or any other personal expenses.

Admittance to the conference without registration cannot be granted.

Conference Attendance

Upon arrival at the Illustrious Official College of Physicians of Madrid the day of the event, all participants have to register at the onsite Conference Registration Desk. The desk will open on 1st of April at 8:30 a.m. Upon registration at the registration desk, the conference team will provide participants with information about the event and a badge, which should be worn visibly at all times. The personalised badge authorises participants to attend all conference sessions, lunch and coffee breaks.

 

Cancellation Conditions

Dravet Syndrome Foundation Spain reserves the right to cancel any registration forthwith and without liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent it from performing its obligations. In these circumstances, every effort will be made to find an alternative venue or propose a new date for the conference. Should the conference be cancelled for any reason, airfares, hotels, or other costs incurred by the participants are not reimbursed by the Dravet Syndrome Foundation Spain.

Any participant is allowed to cancel his/her registration but must notify this to the conference organisers by e-mail at research@dravetfoundation.eu.

Name Change

All registrations are only valid for the respective person mentioned in the form. A registered participant unable to attend the conference may nominate (free of charge) a substitute participant by notifying the conference organisers by email at research@dravetfoundation.eu before 24th of March 2022. The procedure allows giving the last name, first name, and email address of the new participant.

Personal Data

Upon registration, the participant authorises Dravet Syndrome Foundation Spain to use their personal data stated above to inform the participant of any further conferences, events, or information concerning the conference and Dravet Syndrome Foundation’s activities. The conference booklet online and in print will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. Conference certificates will be sent to the participants as a PDF document upon request at research@dravetfoundation.eu. Only the name & affiliation will be stated in the certificate, not the email addresses of the participants.
Information is collected by an automated computer system that manages registrations. Security and confidentiality are guaranteed by state-of-the-art technical tools. However, Dravet Syndrome Foundation Spain declines any responsibility concerning data security transmitted through the internet.

Photography
The conference is held in public; therefore, we do not ban participants, exhibitors, partners and other companies from taking photographs of conference activities and participants, and share it via social media. By participating in the conference, you approve that general pictures will be taken and used for our Social Media output, our websites and other communication purposes. You hereby waive any right to oppose, and expressly authorise the organiser to make them available on the Internet or as it may seem fit.

Disclaimer
The conference organiser cannot be held responsible for any loss, injury or damage to any property, whatever the cause may be. Should, for any reason outside the organiser’s control (e.g., political or economic circumstances or a case of ‘force majeure’), the venue or speakers change, or the event be cancelled, the organiser will endeavour to reschedule, but shall not be held responsible for any costs, damages or expenses incurred by the participants. If for any reason the organiser decides to make material changes to this conference, the organiser is not responsible for airfares, hotels or other costs incurred by the participants. The participant takes part in the conference, all tours, and trips at his own risk.

Copyright
The participant is allowed to use the conference documentation exclusively for his/her personal needs.

TERMS & CONDITIONS

The Dravet Syndrome Conference 2022 is organised by Dravet Syndrome Foundation Spain, whose registered office is located at Calle Doctor Fleming, 30, 28036 Madrid, Spain.

The conference shall take place at the Illustrious Official College of Physicians of Madrid, at Calle de Santa Isabel, 51, 28012 Madrid, Spain, on Thursday 31st of March 2022. Attendance to this conference is free of charge, but mandatory for organisational reasons. Participants must register online at www.dravetconference.com. Upon registration, each participant will receive an electronic confirmation by email. On-site registration will be not be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at research@dravetfoundation.eu.

The conference registration includes: Attendance to all sessions, oral sessions and visual presentations. The conference registration includes all coffee breaks, lunch breaks, and conference documentation with all information about the event. The registration does not comprise travelling, accommodation costs or any other personal expenses.

The conference registration includes: Attendance to all sessions, oral sessions and visual presentations. The conference registration includes all coffee breaks, lunch breaks, and conference documentation with all information about the event. The registration does not include travel or accommodation costs or any other personal expenses.

Admittance to the conference without registration cannot be granted.

Conference Attendance
Upon arrival at the Illustrious Official College of Physicians of Madrid the day of the event, all participants have to register at the onsite Conference Registration Desk. The desk will open on 31st of March at 8:30 a.m. Upon registration at the registration desk, the conference team will provide participants with information about the event and a badge, which should be worn visibly at all times. The personalised badge authorises participants to attend all conference sessions, lunch and coffee breaks. 

Cancellation Conditions
Dravet Syndrome Foundation Spain reserves the right to cancel any registration forthwith and without liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent it from performing its obligations. In these circumstances, every effort will be made to find an alternative venue or propose a new date for the conference. Should the conference be cancelled for any reason, airfares, hotels, or other costs incurred by the participants are not reimbursed by the Dravet Syndrome Foundation Spain.

Any participant is allowed to cancel his/her registration but must notify this to the conference organisers by e-mail at research@dravetfoundation.eu.

Name Change
All registrations are only valid for the respective person mentioned in the form. A registered participant unable to attend the conference may nominate (free of charge) a substitute participant by notifying the conference organisers by email at research@dravetfoundation.eu before 24th of March 2022. The procedure allows giving the last name, first name, and email address of the new participant.

Personal Data
Upon registration, the participant authorises Dravet Syndrome Foundation Spain to use their personal data stated above to inform the participant of any further conferences, events, or information concerning the conference and Dravet Syndrome Foundation’s activities. The conference booklet online and in print will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. Conference certificates will be sent to the participants as a PDF document upon request at research@dravetfoundation.eu. Only the name & affiliation will be stated in the certificate, not the email addresses of the participants.

Information is collected by an automated computer system that manages registrations. Security and confidentiality are guaranteed by state-of-the-art technical tools. However, Dravet Syndrome Foundation Spain declines any responsibility concerning data security transmitted through the internet.

Photography
The conference is held in public; therefore, we do not ban participants, exhibitors, partners and other companies from taking photographs of conference activities and participants, and share it via social media. By participating in the conference, you approve that general pictures will be taken and used for our Social Media output, our websites and other communication purposes. You hereby waive any right to oppose, and expressly authorise the organiser to make them available on the Internet or as it may seem fit.

Disclaimer
The conference organiser cannot be held responsible for any loss, injury or damage to any property, whatever the cause may be. Should, for any reason outside the organiser’s control (e.g., political or economic circumstances or a case of ‘force majeure’), the venue or speakers change, or the event be cancelled, the organiser will endeavour to reschedule, but shall not be held responsible for any costs, damages or expenses incurred by the participants. If for any reason the organiser decides to make material changes to this conference, the organiser is not responsible for airfares, hotels or other costs incurred by the participants. The participant takes part in the conference, all tours, and trips at his own risk.

Copyright
The participant is allowed to use the conference documentation exclusively for his/her personal needs.