Fundaci\u00f3 Niemann Pick Espanya<\/a>, amb seu a Lleida, que compta amb el suport de fam\u00edlies afectades, amics, voluntaris i altres col\u00b7laboradors. Organitzacions hom\u00f2nimes europees i internacionals han manifestat la voluntat de replicar el disseny d\u2019aquest estudi per dur-lo a terme en l\u2019\u00e0mbit mundial per avan\u00e7ar en molts camps de la malaltia. No obstant aix\u00f2, caldria aconseguir suport per comptar amb el finan\u00e7ament necessari per engegar-ho.<\/p>\n <\/p>\n
Una malaltia progressiva i fatal sense cura<\/h3>\n
Sota el paraigua de la malaltia de Niemann Pick s\u2019engloba un grup heterogeni de malalties d\u2019acumulaci\u00f3 lip\u00eddica lisosomal, que s\u2019han classificat en quatre subgrups, de la A a la D. Els tipus A i B (ASMD) no tenen tractament. Fins ara, l\u2019\u00fanic tractament disponible a Europa \u00e9s Miglustat<\/strong>, un f\u00e0rmac capa\u00e7 d\u2019inhibir l\u2019enzim responsable del primer pas per a la s\u00edntesi de glucoesfingol\u00edpids, que es limita al tractament de les manifestacions neurol\u00f2giques tant en pacients adults com pedi\u00e0trics en els tipus C i D, una variaci\u00f3 del tipus C.<\/p>\nLa malaltia de Niemann-Pick tipus C es transmet per her\u00e8ncia autos\u00f2mica recessiva,\u00a0 \u00e9s neurodegenerativa i provoca un problema en el transport de colesterol i esfingol\u00edpids en els lisosomes, unes ves\u00edcules de les c\u00e8l\u00b7lules encarregades del tr\u00e0nsit de subst\u00e0ncies. Aix\u00ed, doncs, es produeix una acumulaci\u00f3 d\u2019aquestes subst\u00e0ncies lip\u00eddiques que fan que la c\u00e8l\u00b7lula i, m\u00e9s concretament la sinapsi, no funcioni b\u00e9.<\/p>\n
Els pacients poden comen\u00e7ar a experimentar s\u00edmptomes a diferents edats, des de nadons fins a adults. Presenten s\u00edmptomes cl\u00ednics molt diversos, normalment amb afectaci\u00f3 del sistema nervi\u00f3s i amb afectaci\u00f3 visceral al fetge, la melsa<\/strong> i, en casos m\u00e9s greus, als pulmons i, en darrera inst\u00e0ncia, al cervell.<\/p>\nDe fet, l\u2019afectaci\u00f3 en el sistema nervi\u00f3s \u00e9s molt variable: des de dificultats cognitives a problemes de conducta i psiqui\u00e0trics, epil\u00e8psia, limitaci\u00f3 del moviment dels ulls, distonia, at\u00e0xia o esplenomeg\u00e0lia, entre d\u2019altres. \u201cL\u2019\u00fas efectiu de l\u2019Efavirenz en humans significar\u00e0 una major esperan\u00e7a i qualitat de vida per als pacients i les seves fam\u00edlies, ja que els ratolins han millorat cognitivament, tenen una millor conducta i viuen molt m\u00e9s<\/em>\u201d, ha apuntat el Dr. Jordi Gasc\u00f3n<\/strong>, coordinador de l\u2019assaig cl\u00ednic i membre del Grup de Malalties Minorit\u00e0ries de l\u2019Hospital Universitari de Bellvitge.<\/p>\n\u201cGr\u00e0cies al treball en xarxa d\u2019una investigadora, un cl\u00ednic i un farmac\u00f2leg expert en regulaci\u00f3 es podria arribar a aconseguir un impacte significatiu en la vida de fam\u00edlies i pacients d\u2019una malaltia que \u00e9s molt dura. Hem compartit la sensibilitat per ajudar de forma desinteressada i sense \u00e0nim de lucre aquestes fam\u00edlies. Esperem disposar de resultats positius a escala local per poder compartir aquest coneixement amb la xarxa internacional de recerca en Niemann Pick i malalties minorit\u00e0ries en un futur pr\u00f2xim<\/em>\u201d, afirma el Dr. Videla<\/strong>, responsable de la Unitat de Suport a la Recerca HUB-IDIBELL.<\/p>\n <\/p>\n
<\/p>\n
L\u2019Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) \u00e9s un centre de recerca en biomedicina creat l\u2019any 2004. Est\u00e0 participat per l’Hospital Universitari de Bellvitge i l\u2019Hospital de Viladecans de l’Institut Catal\u00e0 de la Salut, l’Institut Catal\u00e0 d’Oncologia, la Universitat de Barcelona i l\u2019Ajuntament de l\u2019Hospitalet de Llobregat.<\/em><\/p>\nL\u2019IDIBELL \u00e9s membre del Campus d’Excel\u00b7l\u00e8ncia Internacional de la Universitat de Barcelona HUBc i forma part de la instituci\u00f3 CERCA de la Generalitat de Catalunya. L’any 2009 es va convertir en un dels cinc primers centres d\u2019investigaci\u00f3 espanyols acreditats com a institut d\u2019investigaci\u00f3 sanit\u00e0ria per l\u2019Instituto de Salud Carlos III. A m\u00e9s, forma part del programa \u201cHR Excellence in Research\u201d de la Uni\u00f3 Europea i \u00e9s membre de EATRIS i REGIC. Des de l\u2019any 2018, l\u2019IDIBELL \u00e9s un Centro Acreditado de la Fundaci\u00f3n Cient\u00edfica AECC (FCAECC).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"L\u2019IDIBELL i l\u2019Hospital de Bellvitge estudia en assaig cl\u00ednic l\u2019efic\u00e0cia d\u2019Efavirenz, un antiretroviral contra el VIH per al tractament de Niemann Pick tipus C.<\/p>\n","protected":false},"author":8,"featured_media":22019,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1,416,340,457],"tags":[],"class_list":["post-22018","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar","category-malalties-neurologiques-i-neurogenetica","category-neurociencies","category-p-de-neurociencies"],"publishpress_future_action":{"enabled":false,"date":"2024-09-14 19:52:31","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/22018"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=22018"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/22018\/revisions"}],"predecessor-version":[{"id":22021,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/22018\/revisions\/22021"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/22019"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=22018"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=22018"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=22018"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}