{"id":2534,"date":"2023-03-23T10:18:16","date_gmt":"2023-03-23T09:18:16","guid":{"rendered":"https:\/\/f101g.org\/guillaume-canaud\/"},"modified":"2026-08-11T14:09:55","modified_gmt":"2026-08-11T12:09:55","slug":"guillaume-canaud","status":"publish","type":"post","link":"https:\/\/f101g.org\/es\/guillaume-canaud\/","title":{"rendered":"Guillaume Canaud"},"content":{"rendered":"<h4 style=\"text-align: justify;\">Guillaume Canaud, nefr\u00f3logo y Director de la Unidad de Medicina Traslacional y Terapias Dirigidas del Hospital Necker de Par\u00eds, conoci\u00f3 a un paciente que le cambi\u00f3 la vida, y viceversa.<\/h4>\n<blockquote>\n<p style=\"text-align: justify;\">Antes de 2016, solo trataba a pacientes con enfermedades renales. En la actualidad, se ocupa exclusivamente de pacientes que padecen malformaciones vasculares o grasas (s\u00edndrome de Cloves), la mayor\u00eda ni\u00f1os. En 2022 <strong>gan\u00f3 el Prix Galien<\/strong> (que apoya la innovaci\u00f3n en sanidad desde hace 41 a\u00f1os) por su trabajo sobre <strong>el s\u00edndrome de Cloves<\/strong> y los s\u00edndromes de hipercrecimiento. Hasta la fecha, se ha tratado a m\u00e1s de 150 pacientes.   <\/p>\n<\/blockquote>\n<p style=\"text-align: justify;\"><strong>\u00bfC\u00f3mo descubri\u00f3 un tratamiento para estos s\u00edndromes desarm\u00f3nicos de hipercrecimiento?<\/strong><\/p>\n<p style=\"text-align: justify;\">En primer lugar, debemos comprender de d\u00f3nde proceden estas malformaciones. Est\u00e1n causadas por la mutaci\u00f3n del gen PIK3CA, responsable de la proliferaci\u00f3n excesiva de c\u00e9lulas y tejidos en el organismo cuando se supone que debe regularla. Si se activa en exceso, es responsable de un crecimiento excesivo en las partes del cuerpo afectadas por la mutaci\u00f3n.  <\/p>\n<p style=\"text-align: justify;\">En una <a href=\"https:\/\/www.radiofrance.fr\/franceinter\/podcasts\/l-invite-de-9h10\/le-7-9h30-l-interview-de-9h10-du-lundi-30-janvier-2023-3174803\">entrevista en radiofrance<\/a>, Guillaume explic\u00f3: \u00abJ&#8217;ai peut-\u00eatre un peu chang\u00e9 sa vie. Mais Emmanuel a compl\u00e8tement transform\u00e9 la mienne. Il est arriv\u00e9 en 2015 \u00e0 l&#8217;h\u00f4pital Necker-Enfants malades, dans le service o\u00f9 je travaillais. J&#8217;\u00e9tais alors n\u00e9phrologue. Emmanuel avait ce fameux syndrome de Cloves avec une maladie r\u00e9nale. Sa pathologie \u00e9tait extr\u00eamement s\u00e9v\u00e8re, tr\u00e8s avanc\u00e9e. Et nous n&#8217;avions pas de traitement. Sa vie \u00e9tait menac\u00e9e.\u00bb<\/p>\n<p style=\"text-align: justify;\">Al observar m\u00e1s de cerca a este paciente, Guillaume Canaud se dio cuenta de que las mutaciones de este gen encontradas en pacientes con el s\u00edndrome de Cloves eran las mismas que las halladas en pacientes con varios tipos de c\u00e1ncer, en particular c\u00e1ncer de mama y de colon. El m\u00e9dico pens\u00f3 entonces que probablemente las empresas farmac\u00e9uticas estaban trabajando en f\u00e1rmacos para bloquear esta prote\u00edna cancer\u00edgena, por lo que se dirigi\u00f3 a un laboratorio (Novartis) que estaba trabajando en el desarrollo de un inhibidor espec\u00edfico del gen PIK3CA, denominado BYL719, actualmente en fase de ensayo terap\u00e9utico. Se ha obtenido la autorizaci\u00f3n de comercializaci\u00f3n acelerada en Estados Unidos. Al iniciar el tratamiento, se observaron muy r\u00e1pidamente efectos positivos en todos los s\u00edntomas, como una reducci\u00f3n significativa de las masas y crecimientos vasculares que padec\u00eda el paciente, con la consiguiente mejora de su calidad de vida.   <\/p>\n<p style=\"text-align: justify;\">Otro ejemplo -digno de un milagro- del \u00e9xito de esta terapia es <strong>Ashanti<\/strong>. Desde los 24 meses estaba parapl\u00e9jica porque una masa le comprim\u00eda la espalda. Desgraciadamente, las numerosas operaciones a las que fue sometida le impidieron recuperarse. Viv\u00eda con incontinencia en una silla de ruedas. Comenzar\u00e1 este nuevo tratamiento en 2018. Al cabo de unos d\u00edas, pod\u00eda mover los dedos de los pies y, al cabo de un mes, pod\u00eda ponerse de pie. Despu\u00e9s de caminar con un andador, ahora puede correr y saltar como una ni\u00f1a de su edad y llevar una vida completamente normal.      <\/p>\n<blockquote>\n<p style=\"text-align: justify;\">\u00abSi te la cruzas por la calle, no puedes saber que padece esta enfermedad.<\/p>\n<\/blockquote>\n<p style=\"text-align: justify;\">\u00abEstados Unidos sigui\u00f3 el ejemplo enseguida. A finales de 2018, empezamos a hablar con Novartis, para ver c\u00f3mo pod\u00edamos avanzar y permitir el acceso r\u00e1pido a esta mol\u00e9cula a pacientes de casi todo el mundo. Desarrollamos lo que llamamos un ensayo cl\u00ednico de la vida real. As\u00ed que pedimos a las agencias de medicamentos estadounidense y europea que recopilaran toda la informaci\u00f3n de los primeros 57 pacientes tratados en todo el mundo. Estos datos fueron analizados por un organismo independiente, que valid\u00f3 lo que hab\u00edamos observado. La agencia americana dio el visto bueno.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Guillaume Canaud, nefr\u00f3logo y Director de la Unidad de Medicina Traslacional y Terapias Dirigidas del Hospital Necker de Par\u00eds, conoci\u00f3 &hellip;<\/p>\n","protected":false},"author":11,"featured_media":4023,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":false,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"jetpack_post_was_ever_published":false},"categories":[185],"tags":[],"class_list":["post-2534","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-enfermedades-raras"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - 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