{"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\/tl\/impact-stories\/donor-support-advances-new-treatment-for-eb-a-rare-and-painful-skin-disease\/","title":{"rendered":"Ang Suporta ng Donor ay Nagsusulong ng Bagong Paggamot para sa EB, Isang Bihira at Masakit na Sakit sa Balat"},"content":{"rendered":"

Ang mga pamilyang naninirahan sa isa sa mga pinaka-nakapanghinang kondisyon ng balat ngayon ay may higit na dahilan para sa pag-asa. Kamakailan, ipinakita ng isang phase 3 na klinikal na pagsubok na ang gene therapy skin grafts ay makabuluhang nakatulong sa mga pasyente na may epidermolysis bullosa (EB). Ang mga resulta, <\/span>na-publish sa <\/span>Ang Lancet<\/span><\/i><\/a>, ipakita ang mahalagang papel na ginampanan ng mga mananaliksik sa Stanford School of Medicine sa pagbuo ng bagong paggamot.<\/span>\u00a0<\/span><\/p>\n

Ang tumaas na kamalayan ng publiko at bukas-palad na suporta sa donor ay nakatulong din sa pagpapasigla ng tagumpay na ito. Nasa unahan <\/span>ay si Jean Y. Tang, MD, PhD, propesor ng dermatolohiya na gumagamot sa mga bata na may EB sa Lucile Packard Children's Hospital Stanford. Ang mga skin grafts ay pinagkalooban ng pag-apruba mula sa US Food and Drug Administration noong Abril 29. Magagamit ang mga ito sa limang ospital sa buong bansa, kabilang ang Packard Children's Hospital kung saan si Joyce Teng, MD, PhD, propesor ng dermatology, ay magtutulungan sa kanilang paggamit sa mga surgeon at anesthesiologist: H. Peter Lorenz, MD, Louise Khosla, at Rohit Khosla\u00a0<\/span>\u00a0<\/span><\/p>\n

"Ang pilantropo ay may malaking papel sa pagtutulak ng pananaliksik sa Stanford patungo sa mga bagong therapy upang gamutin ang EB," sabi ni Tang,<\/span> na kapwa may-akda ng pag-aaral<\/span>. "Mula noong nagsimula ako bilang isang mananaliksik sa larangang ito 10 taon na ang nakararaan, marami na kaming natutunan tungkol sa sakit na ito at ngayon ay may kapana-panabik na bagong therapy na inaprubahan ng FDA. Ipagpapatuloy namin ang aming mga pagsisikap na mapabilis ang mga paggamot at sa huli ay makahanap ng lunas."\u00a0<\/span>\u00a0<\/span><\/p>\n

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\n "Nakatulong ang suporta sa donor..."\n <\/h2>\n\n

\n Ginagawa ng aming komunidad ng donor ang mga pambihirang tagumpay na tulad nito. Isulong ang mga susunod na inobasyon sa kalusugan ng bata.\n <\/p>\n \n

\n \n Bigyan Ngayon\n \n <\/a>\n \n <\/div>\n <\/div>\n\n <\/div>\n <\/div>\n<\/section>\n\n

Hanggang 5,000 katao sa US ang may EB\u2014karamihan ay mga bata dahil sa pinababang pag-asa sa buhay na nauugnay sa sakit. Ang kundisyon ay sanhi ng isang depekto sa gene para sa collagen VII, isang mahalagang protina na nakaangkla sa itaas at ibabang mga layer ng balat. Ang mga pasyente na may malubhang EB ay may balat na napakasensitibo na ang kaunting pagpindot ay maaaring humantong sa blistering at, sa kalaunan, malaki, bukas na mga sugat na hindi na gumagaling, na nagdudulot ng matinding sakit.\u00a0<\/span>\u00a0<\/span><\/p>\n

Ang dalawampung taong gulang na si Charlotte Brown ng Birmingham, Alabama, ay nakakaranas ng mas kaunting sakit mula sa EB kaysa bago siya sumali sa phase 3 na pagsubok noong 2021. Ang genetically engineered grafts na natanggap niya sa pagsubok ay lubos na nakabawas sa kalubhaan ng ilang malalang sugat. Nagagawa pa niyang hawakan ang isang trabahong gusto niya\u2014bilang isang pharmacy technician.\u00a0<\/span>\u00a0<\/span><\/p>\n

"Sa totoo lang, ito ay nagbabago sa buhay," sabi ni Brown. \u201cLalong gumanda ang pakiramdam ko.\u201d<\/span>\u00a0<\/span><\/p>\n

Si Brown ay isa sa 11 na lumahok sa pag-aaral, karamihan sa kanila ay nakatanggap ng mga gene-therapy sheet sa maraming mga site sa kanilang balat.<\/span>\u00a0<\/span><\/p>\n

Ang bagong paggamot ay nagsasangkot ng pagkuha ng isang maliit na biopsy mula sa walang sugat na balat ng pasyente at paggamit ng isang virus upang maghatid ng isang malusog na kopya ng mutated gene sa mga selula ng balat ng pasyente sa laboratoryo. Ang genetically engineered na mga cell ay lumaki sa mga sheet ng balat na halos kasing laki ng isang credit card. Ang ginagamot na mga cell sheet ng balat ay pagkatapos ay i-graft sa pamamagitan ng operasyon sa mga sugat na hindi gumagaling ng pasyente. Ang cell therapy na ito ay nagbibigay ng pangmatagalang pinagmumulan ng type VII collagen at nagpapagaling sa mga talamak, masakit na sugat ng pasyente.\u00a0<\/span>\u00a0<\/span><\/p>\n

"Kapag nakita mo ang mga pasyente na nabubuhay na may EB at kung gaano kapahina ang sakit, gagawin mo ang lahat sa iyong makakaya upang matulungan sila," sabi ni Anthony Oro, MD, PhD, co-director at co-founder ng Center for Curative and Definitive Medicine (CDCM) at ang <\/span>Eugene at Gloria Bauer Propesor ng Dermatology<\/span><\/i>. "Ngayon ay mayroon na tayong solusyon na maaaring permanenteng ayusin ang kanilang nasirang balat."<\/span>\u00a0<\/span><\/p>\n

Hindi ito nangyari sa magdamag. Si Gene Bauer, MD, ngayon ay isang propesor na emeritus ng dermatolohiya, ay nagdala ng pananaliksik sa EB sa Stanford higit sa 20 taon na ang nakakaraan at nagtipon ng isang pangkat ng mga mananaliksik, na kalaunan ay nagresulta sa pambihirang tagumpay na ito. Ang mga skin grafts ay unang sinubukan sa isang phase 1 na klinikal na pagsubok na pinamunuan ni Alfred Lane, MD, ngayon ay isang propesor emeritus ng dermatology, at Peter Marinkovich, MD, associate professor of dermatology. Karagdagang suporta ay nagmula sa Senior Staff Scientist Zurab Siprashvili at Paul Khavari, chair ng Department of Dermatology, na nakatuon sa pagbuo ng therapy na ito mula sa mga cell, hanggang sa mga daga, at sa mga pasyente.<\/span>\u00a0<\/span><\/p>\n

Fast-forward sa 2017 nang itinatag ang CDCM na may misyon na isalin ang mga natuklasan mula sa bangko patungo sa gilid ng kama. Si Tang, isang investigator ng CDCM, ay nagsimula sa kanyang phase 3 clinical trial pagkalipas ng ilang taon. Ang mga skin graft ay t<\/span>siya ang unang produkto na inaprubahan ng FDA na lumabas mula sa CDCM, na nagmamarka ng isang pangunahing milestone para sa institusyon.<\/span>\u00a0<\/span><\/p>\n

Ang kanilang pagtuklas ay maaaring humantong sa mas malalaking tagumpay. Higit pa sa EB, ang paggamot ay maaaring magdala ng mga insight na nagbibigay-daan sa Stanford na tugunan ang iba pang genetic na sakit\u2014kung saan ang isang gene ang may kasalanan\u2014kabilang ang cystic fibrosis, cardiovascular disease, neurodegenerative disease, at hereditary cancers.\u00a0<\/span>\u00a0<\/span><\/p>\n

"Anumang tagumpay, anumang paggamot, anumang lunas sa EB ay magbubukas ng mga pintuan ng baha at ang posibilidad na gamutin ang iba pang kumplikadong genetic na sakit," sabi ni Tang. "Ang EB ang magiging pinuno sa mga genetic therapies!"\u00a0<\/span>\u00a0<\/span><\/p>\n

May mahalagang papel ang Philanthropy sa buong paglalakbay na ito. Ang suporta sa donor ay naging instrumento sa paglulunsad ng yugto 1 na klinikal na pagsubok, na nagpakita ng paunang pangako at tumulong sa pag-akit ng mas malalaking mamumuhunan, kabilang ang Abeona Therapeutics, Epidermolysis Bullosa Medical Research Foundation, at ang EB Research Partnership. Dahil sa momentum na ito, ang pamilya ng pilantropo na si Bowei Lee ay gumawa kamakailan ng isang makabuluhang regalo bilang parangal sa isang<\/span>pasulong na pananaliksik sa EB at mga bihirang sakit.\u00a0\u00a0<\/span>\u00a0<\/span><\/p>\n

Ito rin ay panahon ng lumalagong kamalayan para sa EB, na hinimok ng mga kilalang tao tulad ni Eddie Vedder ng Pearl Jam. Ang kanyang bagong dokumentaryo, <\/span>Usapin ng Oras<\/span><\/i><\/a>, na kasunod ng kanyang unang solo tour, kasama ang mga kuwento ng mga taong naapektuhan ng paglalakbay sa pagsasaliksik ni EB at Tang, na ipinalabas noong unang bahagi ng buwang ito sa Tribeca Film Festival.\u00a0<\/span>\u00a0<\/span><\/p>","protected":false},"excerpt":{"rendered":"

Ang mga pamilyang naninirahan sa isa sa mga pinaka-nakapanghinang kondisyon ng balat ngayon ay may higit na dahilan para sa pag-asa. Kamakailan, ipinakita ng isang phase 3 na klinikal na pagsubok na ang gene\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\/tl\/impact-stories\/donor-support-advances-new-treatment-for-eb-a-rare-and-painful-skin-disease\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\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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