{"id":21390,"date":"2025-06-23T18:30:19","date_gmt":"2025-06-23T18:30:19","guid":{"rendered":"https:\/\/lpfch.org\/?p=21390"},"modified":"2025-07-15T23:19:55","modified_gmt":"2025-07-15T23:19:55","slug":"donor-support-advances-new-treatment-for-eb-a-rare-and-painful-skin-disease","status":"publish","type":"post","link":"https:\/\/lpfch.org\/es\/impact-stories\/donor-support-advances-new-treatment-for-eb-a-rare-and-painful-skin-disease\/","title":{"rendered":"El apoyo de los donantes impulsa un nuevo tratamiento para la EB, una enfermedad cut\u00e1nea rara y dolorosa."},"content":{"rendered":"

Las familias que conviven con una de las afecciones cut\u00e1neas m\u00e1s debilitantes ahora tienen m\u00e1s motivos para la esperanza. Recientemente, un ensayo cl\u00ednico de fase 3 demostr\u00f3 que los injertos de piel mediante terapia g\u00e9nica ayudaron significativamente a los pacientes con epiderm\u00f3lisis bullosa (EB). Los resultados, <\/span>publicado en <\/span>La Lancet<\/span><\/i><\/a>, muestran el papel vital que desempe\u00f1aron los investigadores de la Facultad de Medicina de Stanford en el desarrollo del nuevo tratamiento.<\/span>\u00a0<\/span><\/p>\n

El aumento de la concienciaci\u00f3n p\u00fablica y el generoso apoyo de los donantes tambi\u00e9n fueron fundamentales para impulsar este avance. A la vanguardia <\/span>La Dra. Jean Y. Tang, profesora de dermatolog\u00eda que trata a ni\u00f1os con epiderm\u00f3lisis bullosa en el Hospital Infantil Lucile Packard de Stanford, es la responsable de los injertos de piel. Estos recibieron la aprobaci\u00f3n de la Administraci\u00f3n de Alimentos y Medicamentos de Estados Unidos (FDA) el 29 de abril y estar\u00e1n disponibles en cinco hospitales del pa\u00eds, incluido el Hospital Infantil Packard, donde la Dra. Joyce Teng, profesora de dermatolog\u00eda, colaborar\u00e1 en su uso con los cirujanos y anestesi\u00f3logos H. Peter Lorenz, Rohit Khosla y Louise Furakawa.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cLa filantrop\u00eda ha desempe\u00f1ado un papel significativo en el impulso de la investigaci\u00f3n en Stanford hacia nuevas terapias para tratar la EB\u201d, afirma Tang.<\/span> quien fue coautor del estudio<\/span>\u201cDesde que comenc\u00e9 mi carrera como investigador en este campo hace 10 a\u00f1os, hemos aprendido much\u00edsimo sobre esta enfermedad y ahora contamos con una nueva y prometedora terapia aprobada por la FDA. Seguiremos trabajando para acelerar el desarrollo de tratamientos y, finalmente, encontrar una cura.\u201d\u00a0<\/span>\u00a0<\/span><\/p>\n

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\n "El apoyo de los donantes fue fundamental..."\n <\/h2>\n\n

\n Nuestra comunidad de donantes hace posibles estos avances. Impulsa las pr\u00f3ximas innovaciones en salud infantil.\n <\/p>\n \n

\n \n Dona ahora\n \n <\/a>\n \n <\/div>\n <\/div>\n\n <\/div>\n <\/div>\n<\/section>\n\n

En Estados Unidos, hasta 5000 personas padecen epiderm\u00f3lisis bullosa (EB); la mayor\u00eda son ni\u00f1os debido a la menor esperanza de vida asociada a la enfermedad. Esta afecci\u00f3n se debe a un defecto en el gen del col\u00e1geno VII, una prote\u00edna esencial que fija las capas superiores e inferiores de la piel. Los pacientes con EB grave tienen la piel tan sensible que el m\u00e1s m\u00ednimo roce puede provocar ampollas y, con el tiempo, grandes heridas abiertas que no cicatrizan, causando un dolor intenso.\u00a0<\/span>\u00a0<\/span><\/p>\n

Charlotte Brown, de 20 a\u00f1os y residente de Birmingham, Alabama, experimenta mucho menos dolor a causa de la epiderm\u00f3lisis bullosa (EB) que antes de participar en el ensayo cl\u00ednico de fase 3 en 2021. Los injertos gen\u00e9ticamente modificados que recibi\u00f3 en el ensayo han reducido considerablemente la gravedad de varias heridas cr\u00f3nicas. Incluso puede mantener un trabajo que le apasiona: el de t\u00e9cnica de farmacia.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cSinceramente, me ha cambiado la vida\u201d, dice Brown. \u201cMe siento mucho mejor\u201d.<\/span>\u00a0<\/span><\/p>\n

Brown es una de las 11 personas que participaron en el estudio, la mayor\u00eda de las cuales recibieron las l\u00e1minas de terapia g\u00e9nica en m\u00faltiples zonas de su piel.<\/span>\u00a0<\/span><\/p>\n

El nuevo tratamiento consiste en tomar una peque\u00f1a biopsia de la piel sana del paciente y utilizar un virus para introducir una copia sana del gen mutado en sus c\u00e9lulas cut\u00e1neas en el laboratorio. Las c\u00e9lulas modificadas gen\u00e9ticamente se cultivan hasta formar l\u00e1minas de piel del tama\u00f1o aproximado de una tarjeta de cr\u00e9dito. Estas l\u00e1minas de c\u00e9lulas tratadas se injertan quir\u00fargicamente en las heridas del paciente que no cicatrizan. Esta terapia celular proporciona una fuente de col\u00e1geno tipo VII a largo plazo y cura las heridas cr\u00f3nicas y dolorosas del paciente.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cCuando ves a pacientes que viven con EB y lo debilitante que es la enfermedad, har\u00e1s todo lo posible por ayudarlos\u201d, dice Anthony Oro, MD, PhD, codirector y cofundador del Centro de Medicina Curativa y Definitiva (CDCM) y del <\/span>Profesor Eugene y Gloria Bauer de Dermatolog\u00eda<\/span><\/i>\u201cAhora tenemos una soluci\u00f3n que puede reparar permanentemente su piel da\u00f1ada.\u201d<\/span>\u00a0<\/span><\/p>\n

No fue un proceso instant\u00e1neo. El Dr. Gene Bauer, ahora profesor em\u00e9rito de dermatolog\u00eda, impuls\u00f3 la investigaci\u00f3n sobre la epiderm\u00f3lisis bullosa (EB) en Stanford hace m\u00e1s de 20 a\u00f1os y reuni\u00f3 a un equipo de investigadores, lo que finalmente deriv\u00f3 en este avance. Los injertos de piel se probaron por primera vez en un ensayo cl\u00ednico de fase 1 dirigido por el Dr. Alfred Lane, tambi\u00e9n profesor em\u00e9rito de dermatolog\u00eda, y el Dr. Peter Marinkovich, profesor asociado de dermatolog\u00eda. Tambi\u00e9n contaron con el apoyo del cient\u00edfico s\u00e9nior Zurab Siprashvili y de Paul Khavari, jefe del Departamento de Dermatolog\u00eda, quienes se comprometieron a desarrollar esta terapia desde las c\u00e9lulas hasta los ratones y, finalmente, los pacientes.<\/span>\u00a0<\/span><\/p>\n

Avancemos r\u00e1pidamente a 2017, cuando se fund\u00f3 el CDCM con la misi\u00f3n de trasladar los descubrimientos del laboratorio a la pr\u00e1ctica cl\u00ednica. Tang, investigadora del CDCM, comenz\u00f3 su ensayo cl\u00ednico de fase 3 unos a\u00f1os despu\u00e9s. Los injertos de piel son...<\/span>El primer producto aprobado por la FDA que surge del CDCM, lo que marca un hito importante para la instituci\u00f3n.<\/span>\u00a0<\/span><\/p>\n

Su descubrimiento podr\u00eda conducir a avances a\u00fan mayores. M\u00e1s all\u00e1 de la EB, el tratamiento podr\u00eda aportar conocimientos que permitan a Stanford abordar otras enfermedades gen\u00e9ticas \u2014en las que un solo gen es el responsable\u2014, como la fibrosis qu\u00edstica, las enfermedades cardiovasculares, las enfermedades neurodegenerativas y los c\u00e1nceres hereditarios.\u00a0<\/span>\u00a0<\/span><\/p>\n

\u201cCualquier \u00e9xito, cualquier tratamiento, cualquier cura para la EB abrir\u00e1 las puertas a un sinf\u00edn de posibilidades para tratar otras enfermedades gen\u00e9ticas complejas\u201d, afirma Tang. \u201c\u00a1La EB se convertir\u00e1 en l\u00edder en terapias gen\u00e9ticas!\u201d.\u00a0<\/span>\u00a0<\/span><\/p>\n

La filantrop\u00eda ha desempe\u00f1ado un papel crucial a lo largo de este proceso. El apoyo de los donantes fue fundamental para el lanzamiento del ensayo cl\u00ednico de fase 1, que mostr\u00f3 resultados prometedores y ayud\u00f3 a atraer a inversores de mayor envergadura, como Abeona Therapeutics, la Fundaci\u00f3n para la Investigaci\u00f3n M\u00e9dica de la Epiderm\u00f3lisis Bullosa y la Alianza para la Investigaci\u00f3n de la EB. Aprovechando este impulso, la familia del fil\u00e1ntropo Bowei Lee realiz\u00f3 recientemente una importante donaci\u00f3n en su honor a una<\/span>Investigaci\u00f3n avanzada sobre la EB y las enfermedades raras.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n

Tambi\u00e9n es un momento de creciente concienciaci\u00f3n sobre la EB, impulsada por celebridades como Eddie Vedder de Pearl Jam. Su nuevo documental, <\/span>Cosa de tiempo<\/span><\/i><\/a>El documental, que sigue a su primera gira en solitario, junto con historias de personas afectadas por la EB y la trayectoria de investigaci\u00f3n de Tang, se estren\u00f3 a principios de este mes en el Festival de Cine de Tribeca.\u00a0<\/span>\u00a0<\/span><\/p>","protected":false},"excerpt":{"rendered":"

Las familias que viven con una de las afecciones cut\u00e1neas m\u00e1s debilitantes ahora tienen m\u00e1s motivos de esperanza. Recientemente, un ensayo cl\u00ednico de fase 3 demostr\u00f3 que el gen\u2026<\/p>","protected":false},"author":7,"featured_media":21391,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[148,164],"class_list":["post-21390","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-in-the-news","category-research"],"acf":[],"yoast_head":"\nDonor Support Advances New Treatment for EB, a Rare and Painful Skin Disease - Lucile Packard Foundation for Children's Health<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"http:\/\/lpfch.org\/es\/impact-stories\/donor-support-advances-new-treatment-for-eb-a-rare-and-painful-skin-disease\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Donor Support Advances New Treatment for EB, a Rare and Painful Skin Disease\" \/>\n<meta property=\"og:description\" content=\"Families living with one of the most debilitating skin conditions now have more reason for hope. 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