David Vetter was born in 1971, and lived his short life isolated in a plastic wrap. But since 2016, the first gene therapy for children like him is no longer available only on an experimental basis, but as a recognized treatment.<\/p>\n
David Vetter was the first and most famous of the “bubble children”: struck by a rare genetic disease that cancels the immune defenses, he lived up to twelve years in a plastic casing designed to protect it from common viruses and bacteria, almost harmless to normal people, but which could have caused fatal infections to him. The only moments in which he came into contact with the world were those just before he died, after a bone marrow transplant attempted to heal him, and which did not work. It was 1983.<\/p>\n
His case also helped to make known the syndrome he was suffering from, so today there are therapies to which research in Italy has made an essential contribution.<\/p>\n
Completely defenseless. The Scid, or serious combined immunodeficiencies, are a group of diseases, usually hereditary, which cause a defect in the production of T and B lymphocytes, the cells responsible for defending the body from infections. Newborns affected by the disease (which affects one in 50 thousand to one in 75 thousand born are perfectly normal at birth but, after the first few months of life in which they are protected by antibodies passed from the mother, they usually begin to get infections that they don’t they manage to recover.<\/p>\n
David had X-linked Scid, in which the genetic defect that results in the lack of lymphocyte production is located on the X chromosome, and affects only males. The so-called Ada-Scid is instead due to the deficiency of an enzyme, the adenosindeaminase (ADA), which in turn causes an alteration of the lymphocytes.<\/p>\n
Isolated to survive. At the time of David, in the early 1970s, the only hope for him to survive was to keep him in an environment that was as sterile as possible, to avoid infections that could have killed him. Even if the images show a cheerful and playful child, perfectly normal, even when David was alive there were those who wondered if it was ethically acceptable to raise a child completely isolated from the world.<\/p>\n
On very few occasions David was allowed to get out of the bubble, once wearing a kind of space suit that NASA engineers had designed specifically for him<\/strong><\/p>\n The only other hope was bone marrow transplantation from an at least partially compatible donor, brother or sister. This road was also attempted for David when he was twelve, but it went wrong. The reason – it is believed – was the passage with the marrow cells of a virus that for him, before the transplant had been able to take root to reconstitute the immune system, was fatal.<\/p>\n Between hopes and disappointments. At the beginning of the nineties, the first attempts at gene therapy were made to treat Scid. At the San Raffaele hospital in Milan, researchers led by Claudio Bordignon, Instead for the form from which David (Scid linked to the X chromosome) was affected, gene therapy, experimented in Paris, proved to be effective but some of the young patients developed a severe side effect, leukemia, after a few months. That story marked an important setback and a period of mistrust in gene therapy.<\/p>\n Today, however, researchers have understood why the leukemia had developed (it is due to the virus used as a carrier and to other contributing causes) and are doing research to remedy the problem.<\/p>\n The group of researchers led by Luigi Naldini, director of the San Raffaele-Telethon Institute in Milan, has developed a new, more targeted therapy for X-linked Scid and has shown that it works in vitro, but has yet to be tested on people.<\/p>\n He has never touched the world, but the world has been touched by him “: this is the epitaph of David Phillip Vetter, born in September 1971 and died in October 1984, after having lived his existence in a bubble because he was affectionate from ADA-SCID.<\/p>\n Towards the first recognized gene therapy. Instead, another method of gene therapy for Ada-Scid based on the genetic correction of bone marrow stem cells has become a recognized, registered and reimbursed treatment. Once all the necessary steps had been passed, in May 2016 gene therapy moved from the state of experimental treatment to that of \u201cofficial\u201d care. “It will be available at the beginning only at San Raffaele, for patients from all over Europe”.<\/p>\n The bubble was built inside the Texas Children’s Hospital in Houston, and then reproduced also inside his parents’ home in Texas<\/strong><\/p>\n Diagnosis immediately. After the story of David, in the United States, a screening on newborns was started: a few days of life an examination is done to diagnose if they are suffering from Scid and some other rare genetic diseases. Although the disease is rare, it is important to identify affected children before the disease is manifested with serious infections, in order to immediately start treatment. “The Meyer children’s hospital in Florence has started experimenting in some regions to develop the most suitable methods, but for the time being in Italy we have not yet managed to get it started” observes Aid. “It would instead be an essential tool”.<\/p>\n David Vetter, la historia del primer ni\u00f1o burbuja, la cura<\/strong><\/p>\n David Vetter naci\u00f3 en 1971 y vivi\u00f3 su corta vida aislado en una envoltura de pl\u00e1stico. Pero desde 2016, la primera terapia g\u00e9nica para ni\u00f1os como \u00e9l ya no est\u00e1 disponible solo de forma experimental, sino como un tratamiento reconocido.<\/p>\n David Vetter fue el primero y m\u00e1s famoso de los “ni\u00f1os burbuja”: afectado por una rara enfermedad gen\u00e9tica que cancela las defensas inmunes, vivi\u00f3 hasta doce a\u00f1os en una carcasa de pl\u00e1stico dise\u00f1ada para protegerlo de virus y bacterias comunes, casi inofensivo para las personas normales, pero que podr\u00eda haberle causado infecciones fatales. Los \u00fanicos momentos en que entr\u00f3 en contacto con el mundo fueron aquellos justo antes de su muerte, despu\u00e9s de que un trasplante de m\u00e9dula \u00f3sea intentara curarlo, y que no funcion\u00f3. Era 1983<\/p>\n Su caso tambi\u00e9n ayud\u00f3 a dar a conocer el s\u00edndrome que padec\u00eda, por lo que hoy en d\u00eda existen terapias en las que la investigaci\u00f3n en Italia ha hecho una contribuci\u00f3n esencial.<\/p>\n Completamente indefenso. Los Scid, o inmunodeficiencias combinadas graves, son un grupo de enfermedades, generalmente hereditarias, que causan un defecto en la producci\u00f3n de linfocitos T y B, las c\u00e9lulas responsables de defender el cuerpo de las infecciones. Los reci\u00e9n nacidos afectados por la enfermedad (que afecta a uno de cada 50 mil a uno de cada 75 mil nacidos son perfectamente normales al nacer, pero, despu\u00e9s de los primeros meses de vida en los que est\u00e1n protegidos por anticuerpos transmitidos por la madre, generalmente comienzan a tener infecciones que no logran recuperarse.<\/p>\n David ten\u00eda Scid ligado a X, en el cual el defecto gen\u00e9tico que resulta en la falta de producci\u00f3n de linfocitos se localiza en el cromosoma X y afecta solo a los hombres. El llamado Ada-Scid se debe a la deficiencia de una enzima, la adenosindeaminasa (ADA), que a su vez causa una alteraci\u00f3n de los linfocitos.<\/p>\n Aislado para sobrevivir. En el momento de David, a principios de la d\u00e9cada de 1970, la \u00fanica esperanza para \u00e9l de sobrevivir era mantenerlo en un ambiente lo m\u00e1s est\u00e9ril posible, para evitar infecciones que podr\u00edan haberlo matado. Incluso si las im\u00e1genes muestran a un ni\u00f1o alegre y juguet\u00f3n, perfectamente normal, incluso cuando David estaba vivo, hab\u00eda quienes se preguntaban si era \u00e9ticamente aceptable criar a un ni\u00f1o completamente aislado del mundo.<\/p>\n En muy pocas ocasiones se le permiti\u00f3 a David salir de la burbuja, una vez que llevaba una especie de traje espacial que los ingenieros de la NASA hab\u00edan dise\u00f1ado espec\u00edficamente para \u00e9l<\/strong><\/p>\n La \u00fanica otra esperanza era el trasplante de m\u00e9dula \u00f3sea de un donante, hermano o hermana al menos parcialmente compatible. Este camino tambi\u00e9n fue intentado por David cuando ten\u00eda doce a\u00f1os, pero sali\u00f3 mal. Se cree que la raz\u00f3n fue el paso con las c\u00e9lulas de la m\u00e9dula de un virus que para \u00e9l, antes de que el trasplante hubiera podido enraizar para reconstituir el sistema inmune, era fatal.<\/p>\n Entre esperanzas y decepciones. A principios de los noventa, se hicieron los primeros intentos de terapia g\u00e9nica para tratar Scid. En el hospital San Raffaele de Mil\u00e1n, investigadores dirigidos por Claudio Bordignon, En cambio, para la forma en que se vio afectado David (Scid vinculado al cromosoma X), la terapia g\u00e9nica, experimentada en Par\u00eds, demostr\u00f3 ser efectiva, pero algunos de los pacientes j\u00f3venes desarrollaron un efecto secundario grave, leucemia, despu\u00e9s de unos meses. Esa historia marc\u00f3 un rev\u00e9s importante y un per\u00edodo de desconfianza en la terapia g\u00e9nica.<\/p>\n Hoy, sin embargo, los investigadores han entendido por qu\u00e9 se hab\u00eda desarrollado la leucemia (se debe al virus utilizado como portador y a otras causas que contribuyen) y est\u00e1n investigando para remediar el problema.<\/p>\n El grupo de investigadores dirigido por Luigi Naldini, director del Instituto San Raffaele-Telethon en Mil\u00e1n, ha desarrollado una nueva terapia m\u00e1s espec\u00edfica para Scid ligado a X y ha demostrado que funciona in vitro, pero a\u00fan no se ha probado en personas.<\/p>\n Nunca ha tocado el mundo, pero el mundo ha sido tocado por \u00e9l “: este es el epitafio de David Phillip Vetter, nacido en septiembre de 1971 y muerto en octubre de 1984, despu\u00e9s de haber vivido su existencia en una burbuja porque era cari\u00f1oso. de ADA-SCID.<\/p>\n Hacia la primera terapia g\u00e9nica reconocida. En cambio, otro m\u00e9todo de terapia g\u00e9nica para Ada-Scid basado en la correcci\u00f3n gen\u00e9tica de c\u00e9lulas madre de m\u00e9dula \u00f3sea se ha convertido en un tratamiento reconocido, registrado y reembolsado. Una vez que se pasaron todos los pasos necesarios, en mayo de 2016 la terapia g\u00e9nica pas\u00f3 del estado de tratamiento experimental al de atenci\u00f3n “oficial”. “Solo estar\u00e1 disponible al principio en San Raffaele, para pacientes de toda Europa”.<\/p>\n La burbuja se construy\u00f3 dentro del Texas Children’s Hospital en Houston, y luego se reprodujo tambi\u00e9n dentro de la casa de sus padres en Texas<\/strong><\/p>\n Diagn\u00f3stico inmediato. Despu\u00e9s de la historia de David, en los Estados Unidos, se inici\u00f3 un examen de detecci\u00f3n en reci\u00e9n nacidos: a los pocos d\u00edas de vida se realiza un examen para diagnosticar si padecen Scid y otras enfermedades gen\u00e9ticas raras. Aunque la enfermedad es rara, es importante identificar a los ni\u00f1os afectados antes de que la enfermedad se manifieste con infecciones graves, para comenzar el tratamiento de inmediato. “El hospital infantil de Meyer en Florencia ha comenzado a experimentar en algunas regiones para desarrollar los m\u00e9todos m\u00e1s adecuados, pero por el momento en Italia todav\u00eda no hemos logrado ponerlo en marcha”, observa Aid. “En cambio, ser\u00eda una herramienta esencial”.<\/p>\n","protected":false},"excerpt":{"rendered":" David Vetter was born in 1971, and lived his short life isolated in a plastic […]<\/p>\n","protected":false},"author":356,"featured_media":14349,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"inline_featured_image":false,"footnotes":""},"categories":[4268],"tags":[],"class_list":["post-14352","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-en"],"_links":{"self":[{"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/posts\/14352","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/users\/356"}],"replies":[{"embeddable":true,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/comments?post=14352"}],"version-history":[{"count":1,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/posts\/14352\/revisions"}],"predecessor-version":[{"id":19848,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/posts\/14352\/revisions\/19848"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/media\/14349"}],"wp:attachment":[{"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/media?parent=14352"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/categories?post=14352"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.42doit.com\/en\/wp-json\/wp\/v2\/tags?post=14352"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\nsought to correct the genetic defect at the origin of Ada-Scid in lymphocytes then re-infused into patients. Two patients were tried, and the results were encouraging but not conclusive.<\/p>\n
\n
\nbusc\u00f3 corregir el defecto gen\u00e9tico en el origen de Ada-Scid en linfocitos y luego reinfundirlo en pacientes. Se probaron dos pacientes y los resultados fueron alentadores pero no concluyentes.<\/p>\n