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Segundo día de nuestra asistencia al Congreso Mundial de Medicamentos Huérfanos

Hoy hemos empezado nuestro segundo día en el Congreso Mundial de Medicamentos Huérfanos #WODC, echando la vista atrás al 2020. Aunque la pandemia ha sido un evento que ninguno olvidaremos, también ha traído nuevos retos a superar, impulsado tecnologías relacionadas con los ensayos clínicos y las enfermedades raras.

Hemos sido testigos de una revolución en los ensayos descentralizados y remotos, facilitando el acceso a los pacientes de enfermedades raras. Nuevos dispositivos de monitorización del paciente han permitido obtener datos más reales y continuados que los que se obtenían en una visita médica puntual. Los registros de datos compartidos y las bases de datos estandarizadas se han hecho más frecuentes, permitiendo compilar datos de enfermedades raras que hasta ahora estaban dispersos por el mundo.

Durante la siguiente conferencia, los panelistas han recalcado la importancia de que los médicos soliciten tests genéticos, sobre todo en enfermedades raras. Estas pruebas proporcionan valiosos conocimientos y son vitales para un correcto diagnóstico. Además, estas pruebas genéticas deberían ir acompañadas del correspondiente informe lo antes posible, ya que a veces se tardan años en recibir ambos. Tiempo que algunos pacientes no tienen. Tampoco nos podemos olvidar de que es crucial ayudar a los pacientes antes del diagnóstico, ya es posible que sea un momento muy estresante, pudiendo llevar a algunas personas a tener miedo de los resultados y no querer realizarse un test genético.

También hemos tenido la oportunidad de escuchar a Minoryx, Volv Global y Moderna, empresas comprometidas con las enfermedades poco frecuentes. Minoryx nos ha hablado de Leriglitazone, un agonista de PPARgamma que ha sido recientemente aprobado para el tratamiento de adenoleucodistrofia (ALD). Este fármaco es prometedor para otras aplicaciones o enfermedades como la Ataxia de Friederich.

Por otro lado, Moderna, usando la misma tecnología empleada en la vacuna contra el SARS-CoV2, han logrado sintetizar las dos subunidades de la proteína no funcional que causa la acidemia propiónica. Como alternativa a la terapia génica, esta técnica es crónica, pero parece ser mucho más precisa y efectiva. Además, Volv Global, una empresa de inteligencia artificial, ha creado un algoritmo capaz de ayudar a médicos con el diagnóstico de enfermedades raras, consiguiendo una rápida detección.

A continuación, hemos asistido a las conferencias de Marcella Kemp, de Ergomed y paciente de una enfermedad rara, Naciba Zetchi, consultora independiente de enfermedades raras, y Yasemin Bettina, de IQVIA. Las tres coinciden en la importancia de contar con los grupos de pacientes en los ensayos clínicos. Nosotros somos quienes podemos ayudar a las empresas a convertir sus retos en posibilidades. Para incluir la voz del paciente en estos estudios es necesario hablar con transparencia, escuchar y empatizar, no solo con el paciente, sino con la familia. Las enfermedades raras no afectan solamente al paciente, sino al mundo que le rodea: familia, educación, exclusión social…

Además, Flaminia Macchia, de Rare Diseases International, ha realizado una presentación centrada en el aspecto social de vivir con una enfermedad rara, incluyendo la discriminación que pueden sufrir estas personas y el trabajo de los/as cuidadores/as. Para ello, se lleva luchando durante tiempo para conseguir una resolución de la ONU específica para enfermedades raras que contemple todas estas realidades. Esta meta se ha conseguido recientemente y, en diciembre de 2021, tendrá lugar la conferencia donde se discutirán los detalles de la resolución.

Por último, el Dr. Ritchie Head, de Ceratium, nos ha hablado sobre el desarrollo clínico de la vamorolona, un nuevo medicamento para el tratamiento de la distrofia muscular de Duchenne. Este compuesto no tiene los efectos secundarios típicos de glucocorticoides, que complican gravemente el tratamiento de la enfermedad. Detrás de los éxitos de esta molécula se encuentran diversas organizaciones de pacientes y filantrópicas que han colaborado en gran manera en su financiación, demostrando que se pueden impulsar nuevos tratamientos con la perspectiva de los pacientes como principal objetivo.

Desde la Fundación Síndrome de Dravet seguiremos dándonos a conocer para atraer a España más ensayos clínicos relacionados con esta enfermedad. Cada vez vemos que es más importante nuestra colaboración para conseguir estudios eficaces y resultados prometedores.

Un sueño, una meta.

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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.