Más de 300 millones de personas conviven en todo el mundo con alguna de las 6,000 enfermedades raras catalogadas hasta la fecha. En Europa son 30 millones. En España, las estimaciones dicen que hay unos tres millones de personas afectadas por las llamadas enfermedades poco frecuentes.
Por la propia definición de lo que significa padecer una de estas patologías, muchas veces, los profesionales que conocen una dolencia concreta no están cerca del paciente que la sufre. No en vano, una enfermedad rara es aquella que afecta, como máximo, a cinco personas por cada 10,000 habitantes. Es por esto que el trabajo en red y la transferencia de conocimiento es crucial para que estas enfermedades avancen.
Aprovechando que este martes se celebra el Día Mundial de las enfermedades raras -aunque realmente el día oficial sea el 29 de febrero, por ser la jornada más rara del calendario-, la Comisión Europea ha querido celebrar unas jornadas con pacientes, profesionales y autoridades en las que han abordado estas patologías desde una perspectiva comunitaria, y en las que han aprovechado para presentar una herramienta en la que llevan trabajando los últimos 10 años.
Se trata de los European Reference Networks (ERN) o Redes de Referencia Europea en español, unos grupos de colaboración voluntaria entre los estados miembros del proyecto.
Que servirán para compartir información de “enfermedades complejas y raras que requieren de tratamiento especializado y exigen una alta concentración de recursos y conocimiento”.
En tiempos de Brexit y de políticos que amenazan con abandonar la Unión Europea (UE) , estas plataformas virtuales que empezarán a funcionar a partir de este miércoles han servido para que sus promotores saquen pecho sobre lo que la UE puede ofrecer a los ciudadanos. Según decía esta mañana Xavier Prats Monné, director general del departamento de Salud y Seguridad Alimentaria, los ERN son “el mejor ejemplo para mostrar el valor de la UE y de lo que se puede conseguir a través de la colaboración entre países”. Una red de redesEstos ERN son, en realidad, un conjunto de muchos ERN.
Hay 24 en total, y cada uno engloba todo un grupo distinto de enfermedades. Así, hay un ERN dedicado a las epilepsias, uno a los desórdenes metabólicos, otro los neuromusculares, y otro al cáncer pediátrico, por citar sólo algunos. Todos juntos, agrupan a más de 900 equipos médicos de 300 hospitales 26 países distintos.
Así, España cuenta con tres representantes del Ministerio de Sanidad que son los responsables últimos a nivel nacional de la iniciativa en nuestro país, y luego hay 16 hospitales públicos adscritos al programa a través de uno u otro ERN.
Por ejemplo, El Virgen del Rocío de Sevilla es miembro del grupo de cáncer en adultos (EURACAN), del de enfermedades neuromusculares (ERN EURO-NMD) y del de cáncer pediátrico (ERN PaedCan); el Hospital Universitario 12 de Octubre de Madrid está en el grupo de anomalías craneofaciales (ERN CRANIO), enfermedades respiratorias (ERN LUNG) y el de desórdenes metabólicos hereditarios (MetabERN); el Hospital Del Mar de Barcelona en el grupo de epilepsias (ERN EpiCARE) y el Virgen de la Arrixaca de Murcia en el grupo de enfermedades del corazón (ERN GUARD-HEART). Son sólo algunos ejemplos
.Con estos ERN, que se materializan en forma de herramienta informática, lo que se busca, según Prats, es que sea “el conocimiento el que viaje, no los pacientes”.
Pero pese al entusiasmo inicial con el que hoy se inaugura esta iniciativa que costará unos 4,6 millones de euros al año, desde Bruselas son conscientes que el éxito o el fracaso de esta medida dependerá en última instancia de la implicación de cada país miembro.Así, aunque Yann Le Cam, director ejecutivo de la asociación europea de enfermedades raras EURORDIS, sostenía esta mañana que los ERN van a suponer “un antes y un después en el abordaje de las enfermedades raras”, también reconocía que “llevará un tiempo que todos los médicos conozcan esta herramienta, y esto tenemos que aceptarlo, porque los ERN sólo funcionarán si están integrados dentro de los sistemas nacionales de salud”.
Respecto a su funcionamiento en sí, cada ERN tiene sus particularidades específicas, con sus grupos de trabajo que se van reuniendo con una u otra periodicidad. Pero en esencia la herramienta básica es una plataforma tecnológica a la que un médico de Huelva -por poner un ejemplo- podrá acceder para ponerse en contacto con un colega de Viena que pueda ayudarle sobre un caso concreto, bien porque él es experto en la materia o porque quizás haya tenido antes un paciente con un diagnóstico similar.No sólo conexiones administrativasPero no se trata sólo de compartir conocimiento.
Las posibilidades que a partir de mañana podrá ofrecer esta ventana de colaboración, explican sus promotores, van mucho más allá. Al poner en contacto a toda la comunidad científica europea para un tema que muchas veces queda relegado al ostracismo, se abre todo un campo de posibilidades, como la publicación de guías médicas, el establecimiento de convenios de investigación, de programas de formación conjunta o de puesta en marcha de ensayos clínicos. Todo, insisten sus responsables, centrado en el paciente.
“No se trata de meras conexiones administrativas entre países, esto era un riesgo que existía y que hemos superado”, explicaba Le Cam.Aunque los ERN nacen como una plataforma de cooperación científica, por el momento no entran en el tema de ofrecer o no tratamientos, que es, al fin y al cabo, una de las grandes preocupaciones de los pacientes.
“No podemos forzar a los países a compartir recursos”, ha explicado Prats. Le Cam, por su parte, añadía que aunque los ERN no están pensados para la movilidad de pacientes, “existe la esperanza” de que, con el tiempo, estos grupos de trabajo tengan “un impacto” en la negociación de precios y coste de los tratamientos.
Lo que sí se espera que consigan desde ya, tal y como ha explicado Ruth Ladenstein, responsable del ERN de cáncer pediátrico (ERN PaedCan), es “evitar la fragmentación”, esa dispersión que a veces existe en todo lo relativo a las enfermedades raras.
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