Resumen de nuestro Simposio Satélite sobre el Síndrome de Dravet💜

Hoy hemos celebrado un simposio sobre el síndrome de Dravet durante la XVI EILAT Conference, un congreso internacional de gran prestigio sobre nuevos fármacos y dispositivos antiepilépticos que se celebra en Madrid cada dos años.

Para conocer de primera mano algunas de las novedades en práctica clínica e investigación para el síndrome de Dravet, hemos invitado a nuestro simposio a profesionales de referencia como la Prof. Dana Craiu, neuropediatra en el Al. Obregia Hospital de Bucarest, Rumanía, y coordinadora del Centro de Expertos en Trastornos Neurológicos Pediátricos Raros Obregia, quien nos presentó cómo evolucionan los síntomas del síndrome de Dravet desde el paciente pediátrico al adulto. Desde los diferentes tipos, duración y frecuencia de las crisis epilépticas, sus desencadenantes, la evolución de resultados de encefalografía (EEG), el retraso en el desarrollo y los problemas ortopédicos hasta el riesgo de mortalidad prematura, siendo la causa más probable la SUDEP (muerte súbita e inesperada por epilepsia). Prof. Craiu mencionó también los estudios que demuestran la relación entre la aparición, frecuencia y severidad de los síntomas Dravet con las mutaciones en SCN1A y otros genes relacionados con la epilepsia.

Por su parte, la Dra. Alba Sierra, que dirige la Unidad de Epilepsia de Adultos del Hospital de la Santa Creu i Sant Pau y que está integrada en la Unidad Transversal Pediatría-Adultos de Epilepsia, mancomunada con el Hospital del Mar de Barcelona, mostró los últimos estudios disponibles específicamente en pacientes adultos con síndrome de Dravet, contemplando además las dificultades diagnósticas en esta población adulta y discutiendo las diferencias con respecto a pacientes pediátricos en cuanto a eficacia y seguridad de fármacos como (i) el estiripentol, cuya eficacia podría disminuir a medida que aumenta la edad del paciente si éste se trató tarde con estiripentol, pero sigue siendo eficaz si el paciente empezó a tratarse pronto con este fármaco; (ii) el cannabidiol, del cual se tienen pocos datos en adultos por lo que falta información para poder concluir su eficacia en esta población; y (iii) la fenfluramina, con efectos positivos en la reducción de las crisis epilépticas tanto en niños como en adultos.

El Prof. Stéphane Auvin quien dirige el Centro de Epilepsias Raras del Hospital Universitario Robert Debré de París  y es además miembro del Comité Científico Asesor de nuestra Fundación, revisó durante su charla datos sobre el efecto de tratamientos no farmacológicos como la dieta cetogénica y la estimulación del nervio vago en pacientes con síndrome de Dravet. Dichos datos parecen prometedores, e incluso algunos de ellos sugieren un efecto de la dieta cetogénica más allá de las crisis epilépticas, aunque hay que tener en cuenta el posible efecto negativo de una dieta tan restrictiva para estos pacientes, quienes muchas veces no la aceptan fácilmente. Stéphane mencionó también brevemente el plan de manejo de crisis de emergencia en el síndrome de Dravet, parte crítica en la vida diaria de nuestros pacientes y familias. Os recordamos que podéis descargaros dicho plan de emergencia en nuestra página web AQUÍ.

La Dra. Laia Turón, coordinadora de la Unidad de Neurología Infantil del Hospital Sant Pau, continuó hablando sobre el tratamiento del síndrome de Dravet más allá de la epilepsia. Porque ya sabemos que, en esta enfermedad, las comorbilidades afectan a la calidad de vida tanto como las crisis epilépticas. Informes recientes que analizan la calidad de vida de pacientes y cuidadores muestran que factores como la discapacidad intelectual, los problemas de comportamiento y la disfunción social son considerados por los progenitores más importantes que la propia epilepsia a medida que el paciente crece. Las alteraciones motrices que pueden llevar a la incapacidad para caminar, y los problemas del sueño y del corazón son también de suma importancia cuando se trata a una persona con síndrome de Dravet. Por lo tanto, el conocimiento de estas comorbilidades y un enfoque multidisciplinar son esenciales, como resaltó la Dra. Turón.

En cuanto a novedades en investigación, la Dra. Moran Rubinstein, investigadora en el Departamento de Genética Molecular Humana y Bioquímica de la Facultad de Medicina de la Universidad de Tel Aviv en Israel y miembro de nuestro Grupo de Trabajo Europeo de Terapias Avanzadas para el Síndrome de Dravet (EDSAT), hizo un fantástico resumen de los diversos modelos de ratón para el estudio del síndrome de Dravet que en la actualidad utilizan los laboratorios del mundo entero. Dichos ratones albergan mutaciones en el gen SCN1A que imitan las que aparecen en pacientes con Dravet, ya sean truncantes, de cambio de sentido (missense) y sin sentido (nonsense). Podéis aprender más sobre genética y las mutaciones en SCN1A en nuestra web AQUÍ.

Moran resaltó los dos modelos de ratón desarrollados por la Fundación Síndrome de Dravet para disposición sin restricciones de cualquier investigador, y demostró cómo ambos modelos muestran todo el espectro de fenotipos del Dravet, desde susceptibilidad a crisis epilépticas inducidas térmicamente y crisis espontáneas, hasta una variedad de comorbilidades conductuales no epilépticas como déficits cognitivos, hiperactividad o problemas motores, lo que los hace unos candidatos ideales para ser utilizados por los científicos de todo el mundo en la búsqueda de nuevos tratamientos para paliar los efectos de esta terrible enfermedad.

La neurobióloga Dra. Else Tolner, profesora adjunta en el Centro Médico de la Universidad de Leiden (LUMC)  en Países Bajos, discutió hallazgos realizados en ratones Dravet que apoyan la idea de la medición por EEG del acoplamiento hipocampo-córtex cerebral como potencial biomarcador para el riesgo de crisis epilépticas y la respuesta a medicamentos antiepilépticos en pacientes.

La Dra. Ann Barbier, directora médico jefe de CAMP4 Therapeutics, empresa de la que ya os hablamos en nuestro Resumen de Fármacos en Camino de finales de 2021, nos habló sobre CMP-SCN-001, antes conocido como AntagoNAT OPK-88001, un oligonucleótido antisentido diseñado para aumentar la expresión del gen SCN1A —lo cual se ha podido comprobar en células de pacientes con Dravet en el laboratorio y, en cierta medida, en primates—, con el potencial efecto reparador de la enfermedad. Ann nos mostró cómo esta potencial terapia reducía la frecuencia de crisis epilépticas en un 70%, y aumentaba el umbral de temperatura al que se inducían las crisis. CAMP4 espera poder iniciar sus ensayos clínicos en humanos a principios de 2023.

Por último, nuestra nueva project manager científica Alicia Muñoz recalcó frente a la audiencia del simposio la importancia de la involucración de los pacientes y sus representantes en el desarrollo de nuevos fármacos y en la toma de decisiones sanitarias. Además, nuestro presidente, José Ángel Aibar, y la directora científica de la Fundación, Elena Cardenal, tuvieron el placer de moderar las sesiones durante todo el simposio junto a los reconocidos Emilio Perucca, profesor clínico honorario en el Departamento de Medicina del Austin Health de Melbourne, Australia, y Torbjörn Tomson, catedrático de Neurología y Epileptología en el Departamento de Neurociencia Clínica del Instituto Karolinska en Estocolmo, Suecia, ambos miembros del comité organizador del EILAT XVI.

Gracias a todos los ponentes y asistentes que han participado en el Dravet Syndrome Satellite Symposium. Sin vosotros no sería posible seguir luchando por encontrar nuevos tratamientos para la enfermedad que afecta a nuestros seres queridos. Y un especial agradecimiento al comité organizador del EILAT XVI por su importante apoyo en el día de hoy. ¡De nuestra parte seguimos a partir de mañana disfrutando del congreso EILAT junto a los mayores expertos en epilepsia del mundo! Os mantendremos informados…

💜Un sueño, una meta💜

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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.

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.