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Resumen: European Dravet Syndrome Advanced Therapies Meeting 2022

El síndrome de Dravet es una enfermedad rara cuyos síntomas suelen comenzar en el primer año de vida, con crisis epilépticas desencadenadas inicialmente por la fiebre, seguidas de una epilepsia resistente a los medicamentos. A partir del segundo año de vida, también provoca graves retrasos cognitivos, motores y del habla, así como problemas de comportamiento. Debido a la naturaleza genética de la enfermedad, las terapias avanzadas, como las basadas en la modificación de genes o proteínas, representan una nueva esperanza en la búsqueda de un tratamiento eficaz para esta patología.

En noviembre de 2020, la Fundación Síndrome de Dravet puso en marcha una iniciativa para reunir a todos los expertos europeos que trabajan en terapias avanzadas para el tratamiento del síndrome de Dravet, con el objetivo de eliminar las barreras entre las diferentes instituciones y fomentar un entorno de cooperación y colaboración, promoviendo el progreso científico básico y traslacional en el desarrollo de nuevos tratamientos.

Este grupo, denominado Dravet Syndrome Advanced Therapies European Working Group (DS ATEWG) y coordinado por la Fundación Síndrome de Dravet, está formado por científicos líderes en el campo de las terapias avanzadas para el síndrome de Dravet y encefalopatías epilépticas y del desarrollo relacionadas.

Así, tras verse pospuesta inicialmente debido a la pandemia por Covid, el 1 de abril de 2022 se organizó en Madrid la primera reunión presencial European Dravet Syndrome Advanced Therapies (EDSAT) Meeting con el objetivo de:

– Debatir sobre el síndrome de Dravet: causas, diagnóstico, comorbilidades, etc.
– Presentar las investigaciones sobre el Síndrome de Dravet que se están llevando a cabo en la actualidad.
– Debatir sobre las posibles soluciones a los problemas que se encuentran los científicos noveles (ECS, Early-Career Scientists).
– Acercar las instituciones académicas a los profesionales de la industria, los pacientes, los reguladores y los clínicos para establecer nuevas colaboraciones y formas de trabajo conjunto.
– Promover el progreso científico básico y traslacional en el desarrollo de nuevos tratamientos.
– Contribuir con ideas para continuar o mejorar el trabajo realizado por la ECS así como por diferentes grupos de investigación.
– Recompensar y fomentar el trabajo realizado por la ECS.

Por tanto, durante este evento los investigadores del DS ATEWG junto con una serie de profesionales (clínicos, reguladores y profesionales de la industria farmacéutica) y representantes de pacientes de varios países pudieron reunirse cara a cara por primera vez.

Como parte de la agenda de este evento y tras las palabras de bienvenida de José Ángel Aibar, presidente de la Fundación Síndrome de Dravet, se dio paso a una sesión de charlas de investigación. En esta primera sesión participaron (1) Shraddha Dubey, del SIB Swiss Institute of Bioinformatics, que habló sobre las variantes de SCN1A asociadas al síndrome de Dravet y otros trastornos convulsivos, (2) Shir Quinn, de la Universidad de Tel Aviv, que habló sobre los cambios de potencia espectral como biomarcadores agudos en el tratamiento de Dravet, y (3) Anat Mavashov, también de la Universidad de Tel Aviv, que presentó SCN1AR613X, un nuevo modelo de ratón de acceso abierto para la investigación del síndrome de Dravet.

Tras esta primera sesión de charlas de investigación, la Dra. Rajvinder Karda, de la University College London, dirigió un taller de trabajo sobre los diferentes animales de investigación para el síndrome de Dravet. No solo presentó de manera interactiva los modelos disponibles actualmente, sino que también involucró a los asistentes de esta reunión a través de discusiones dinámicas de grupo.

Tras ello, hubo un breve descanso y se procedió a la segunda sesión de charlas de investigación. Esta sesión de charlas de investigación contó con (1) Simona Bagnasco, del Ospedale San Raffaele, que habló sobre la activación del gen Scn1a basada en dCas9 como tratamiento del síndrome de Dravet, (2) Evgeniia Rusina y Massimo Mantegazza, del CNRS y Universidad de la Costa Azul, que presentaron una nueva respuesta homeostática de las neuronas GABAérgicas CCK+ potenciada como enfoque terapéutico, (3) Isabelle Léna, de la Universidad de la Costa Azul y del Instituto de Farmacología Molecular y Celular (IPMC), que habló sobre que la activación del interruptor GABA rescata la sociabilidad y la cognición en un modelo de ratón Scn1a+/- del síndrome de Dravet, (4) Friederike Ehrhart, de la Universidad de Maastricht, que presentó un flujo de trabajo para el descubrimiento de fármacos para enfermedades raras utilizando vías legibles por máquina, y (5) Rob Pleticha, de la Fundación Síndrome de Dravet, que compartió el valor añadido de la colaboración de los pacientes en la investigación y el desarrollo.

A continuación, procedimos al segundo taller de la jornada, que fue dirigido por Vania Broccoli, del San Raffaele Scientific Institute. Este taller estuvo totalmente centrado en los diferentes enfoques de terapias avanzadas para el síndrome de Dravet e involucró de nuevo a los asistentes tras una excelente presentación inicial.

Tras ello, llegó el descanso para comida, que ofreció una excelente oportunidad para la colaboración y el intercambio de ideas entre los diferentes participantes.

A continuación, llegó una interesantísima mesa redonda centrada en la transición de tratamientos del laboratorio hacia la clínica. En esta mesa redonda participaron César Hernández, de la Agencia Española del Medicamento y Productos Sanitarios, Danielle Andrade, de la Universidad de Toronto, Franck Kalume, de la Universidad de Washington, Javier Avendaño, de Stoke Therapeutics, Salvador Rico, de Encoded, y José Ángel Aibar, de la Fundación Síndrome de Dravet. Por tanto, la mesa estuvo formada por médicos, reguladores, investigadores y representantes de los pacientes, que debatieron abiertamente las dificultades de la transición de los medicamentos y las terapias avanzadas del laboratorio hacia los ensayos clínicos, así como muchas otras cuestiones planteadas por los asistentes.

Tras ello, llegó la tercera sesión de charlas de investigación de la jornada, que contó con (1) Linda Serra, del Hospital San Raffaele, que presentó que la manipulación temporal del gen Scn1a revela su papel esencial en el postdesarrollo, (2) Simone Brusco, del Istituto Di Neuroscienze – CNR, que presentó que la reactivación del gen Scn1a después del inicio de los síntomas rescata las convulsiones, los déficits de comportamiento y la alteración del gen y, por último, (3) Saja Fadila, de la Universidad de Tel Aviv, que habló por parte que la expresión de NaV1.1 mediada por adenovirus mejora la epilepsia en ratones con síndrome de Dravet.

Como parte del programa, los asistentes votaron el Premio al Investigador Joven, patrocinado por Encoded Therapeutics, que fue concedido a Saja Fadila por su trabajo “La expresión de Nav1.1 mediada por adenovirus mejora la epilepsia en ratones con síndrome de Dravet “.

En definitiva, la reunión EDSAT 2022 ofreció la oportunidad excelente para compartir y conocer de primera mano información sobre los últimos avances en terapias avanzadas para el síndrome de Dravet. Además, los asistentes y ponentes tuvieron la oportunidad de hablar y debatir con profesionales de la industria, reguladores, clínicos, representantes de pacientes e investigadores para crear y fomentar nuevas relaciones, desarrollar estrategias para obtener resultados científicos eficientes y productivos, y converger y colaborar para el objetivo común de promover la investigación del síndrome de Dravet y el acceso de los pacientes a las terapias avanzadas.

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TERMS & CONDITIONS

The Dravet Syndrome Conference 2023 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 Official College of Nursing of Madrid, at Avenida de Menéndez Pelayo, 93, 28007 Madrid, Spain, on Thursday 23rd of March 2023. 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 not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at [email protected].

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

Admittance to the conference without registration cannot be granted.

Conference Attendance
Upon arrival at the Official College of Nursing of Madrid the day of the event, all participants have to check-in at the onsite Conference Registration Desk. The desk will open on 23rd of March at 8:30 a.m. Upon registration onsite, 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, and lunch and coffee breaks.

Cancellation Policy
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, public health measures, 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 format/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 [email protected] within a minimum of 10 days prior the event. Failure to attend the event without prior written notification by email may incur a no-show fee, which shall cover individual organizational, material and catering costs.

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 [email protected] before 16th of March 2023. 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 Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at [email protected]. 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. Author’s presentation slides shall not be photographed by any conference participant. 

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 European Dravet Syndrome Advanced Therapies (EDSAT) Meeting 2023 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 Official College of Nursing of Madrid, at Avenida de Menéndez Pelayo, 93, 28007 Madrid, Spain, on Friday 24th of March 2023. 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 not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at [email protected].

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

Admittance to the conference without registration cannot be granted.

Conference Attendance
Upon arrival at the Official College of Nursing of Madrid the day of the event, all participants have to check-in at the onsite Conference Registration Desk. The desk will open on 24th of March at 8:30 a.m. Upon registration onsite, 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, and lunch and coffee breaks.

Cancellation Policy
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, public health measures, 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 format/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 [email protected] within a minimum of 10 days prior the event. Failure to attend the event without prior written notification
by email may incur a no-show fee, which shall cover individual organizational, material and catering costs.

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 [email protected] before 17th of March 2023. 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 Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at [email protected]. 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. Author’s presentation slides shall not be photographed by any conference participant.

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.

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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 not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at [email protected].

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

Admittance to the workshop 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 onsite, 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, and lunch and coffee breaks.

Cancellation Policy
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, public health measures, 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 format/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 [email protected] within a minimum of 10 days
prior the event. Failure to attend the event without prior written notification
by email may incur a no-show fee, which shall cover individual organizational,
material and catering costs.

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 [email protected] 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 Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at [email protected]. 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. Author’s presentation slides shall not be photographed by any conference participant.

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 not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at [email protected].

The conference registration includes: Attendance to all sessions, oral and visual presentations, all coffee and lunch breaks, and conference documentation with all information about the event. The registration does not include travel and 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 onsite, 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, and lunch and coffee breaks. 

Cancellation Policy
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, public health measures, 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 format/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 [email protected] within a minimum of 10 days prior the event. Failure to attend the event without prior written notification by email may incur a no-show fee, which shall cover individual organizational, material and catering costs.

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 [email protected] 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 Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at [email protected]. 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. Author’s presentation slides shall not be photographed by any conference participant. 

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.