{"id":4942,"date":"2025-11-20T19:30:28","date_gmt":"2025-11-20T16:30:28","guid":{"rendered":"https:\/\/dmdwarrior.com\/?p=4942"},"modified":"2026-03-17T10:55:13","modified_gmt":"2026-03-17T07:55:13","slug":"creatine-kinase-ck-dystrophin-level-nsaa-score-in-elevidys-gene-therapy","status":"publish","type":"post","link":"https:\/\/dmdwarrior.com\/tr\/creatine-kinase-ck-dystrophin-level-nsaa-score-in-elevidys-gene-therapy\/","title":{"rendered":"Elevidys Gen Terapisinde Kreatin Kinaz (CK), Distrofin Seviyesi ve NSAA Skoru"},"content":{"rendered":"<p class=\"wp-block-paragraph\">Sarepta Therapeutics taraf\u0131ndan Duchenne kas distrofisi i\u00e7in geli\u015ftirilen d\u00fcnyan\u0131n en pahal\u0131 tedavilerinden biri olan ELEVIDYS&#039;i (delandistrogene moxeparvovec-rokl) kullanan DMD&#039;li \u00e7ocuklarda Kreatin Kinaz (CK) d\u00fczeylerinin ne kadar d\u00fc\u015ft\u00fc\u011f\u00fc, NSAA skorunun ve normal distrofin d\u00fczeylerinin ne kadar artt\u0131\u011f\u0131 merak konusu olmaya devam ediyor.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Sarepta Therapeutics taraf\u0131ndan geli\u015ftirilen ELEVIDYS (delandistrogene moxeparvovec-rokl), ABD&#039;de 4-5 ya\u015f aras\u0131 ayakta tedavi g\u00f6ren pediatrik DMD hastalar\u0131 i\u00e7in Haziran 2023&#039;te onaylanan ve daha sonra kapsam\u0131 geni\u015fletilen tek seferlik bir AAV (adeno-ili\u015fkili vir\u00fcs) gen tedavisidir. &gt;&gt;&gt; <a href=\"https:\/\/investorrelations.sarepta.com\/news-releases\/news-release-details\/sarepta-therapeutics-announces-fda-approval-elevidys-first-gene\" target=\"_blank\" rel=\"noreferrer noopener\">yat\u0131r\u0131mc\u0131ili\u015fkileri.sarepta.com<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Mikro-distrofin proteinini (normalde yakla\u015f\u0131k 427 kDa olan distrofin yerine yakla\u015f\u0131k 138 kDa) kodlayan bir geni kas h\u00fccrelerine iletmek i\u00e7in tasarlanm\u0131\u015ft\u0131r. &gt;&gt;&gt; <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37566211\/\" target=\"_blank\" rel=\"noreferrer noopener\">PubMed<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">DMD&#039;de distrofin eksikli\u011fi veya ciddi eksikli\u011fi kas h\u00fccresi hasar\u0131na neden olur; kas lifleri bozulduk\u00e7a kreatin kinaz (CK) gibi belirte\u00e7ler y\u00fckselir. Bu nedenle, Duchenne kas distrofisinde dikkate al\u0131nan iki vekil biyobelirte\u00e7 \u015funlard\u0131r:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CK d\u00fczeyleri, kas hasar\u0131n\u0131n\/kana s\u0131zman\u0131n bir belirteci olarak &gt; <a href=\"https:\/\/dmdwarrior.com\/tr\/what-is-creatine-kinase-ck\/\" target=\"_blank\" data-type=\"post\" data-id=\"2167\" rel=\"noreferrer noopener\">Kreatin kinaz nedir?<\/a><\/li>\n\n\n\n<li>Kas dokusunda distrofin (veya bu durumda mikro-distrofin) ekspresyon seviyeleri<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"the-core-questions-about-creatine-kinase-ck-dystrophin-level-and-nsaa-score-in-elevidys-gene-therapy\"><strong>Elevidys Gen Terapisinde Kreatin Kinaz (CK), Distrofin D\u00fczeyi ve NSAA Skoru ile ilgili temel sorular:<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DMD'li \u00e7ocuklarda ELEVIDYS tedavisi sonras\u0131 CK seviyesi ne kadar azal\u0131r ve distrofin\/mikro-distrofin ne kadar artar?<\/strong><\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Tedavi sonras\u0131nda elde edilen mikrodistrofin d\u00fczeyi, normal insan distrofininin ne kadar\u0131n\u0131 temsil etmektedir?<\/strong><\/li>\n<\/ul>\n\n\n\n<div class=\"wp-block-rank-math-toc-block\" id=\"rank-math-toc\"><h2>\u0130\u00e7indekiler<\/h2><nav><ul><li><a href=\"#the-core-questions-about-creatine-kinase-ck-dystrophin-level-and-nsaa-score-in-elevidys-gene-therapy\">Elevidys Gen Terapisinde Kreatin Kinaz (CK), Distrofin Seviyesi ve NSAA Skoru ile ilgili temel sorular:<\/a><\/li><li><a href=\"#how-much-micro-dystrophin-is-produced-by-elevidys\">Elevidys ne kadar mikro-distrofin \u00fcretir?<\/a><\/li><li><a href=\"#elevidys-alan-cocuklarda-north-star-ambulatuvar-degerlendirmesi-bazen-nsaa-veya-north-star-olarak-da-adlandirilir-puani-ne-kadar-artti\">Elevidys alan \u00e7ocuklarda NSAA skoru ne kadar artt\u0131?<\/a><ul><li><a href=\"#what-is-north-star-ambulatory-assessment-nsaa\">North Star Ambulatuvar De\u011ferlendirmesi (NSAA) nedir?<\/a><\/li><\/ul><\/li><li><a href=\"#what-level-of-improvement-was-observed-in-children-who-were-administered-elevidys\">Elevidys uygulanan \u00e7ocuklarda ne d\u00fczeyde iyile\u015fme g\u00f6zlendi?<\/a><ul><li><a href=\"#what-we-do-know-about-micro-dystrophin-increase\">Mikro-distrofin art\u0131\u015f\u0131 hakk\u0131nda bildiklerimiz<\/a><\/li><li><a href=\"#what-we-do-not-yet-know-clearly-about-ck-decrease\">CK azalmas\u0131 hakk\u0131nda hen\u00fcz net olarak bilmedi\u011fimiz \u015feyler<\/a><\/li><li><a href=\"#why-the-data-gap-matters\">Veri bo\u015flu\u011funun \u00f6nemi nedir?<\/a><\/li><li><a href=\"#what-this-means-for-children-families-and-clinicians\">Bunun \u00e7ocuklar\/aileler ve klinisyenler i\u00e7in anlam\u0131 nedir?<\/a><\/li><\/ul><\/li><li><a href=\"#n\">Duchenne&#039;de Lizozomal Hasar Hakk\u0131nda Yeni Ara\u015ft\u0131rma<\/a><\/li><li><a href=\"#real-world-experience-with-elevidys-gene-therapy-report-from-qatar\">Katar&#039;dan Elevidys gen terapisi raporuyla ilgili ger\u00e7ek d\u00fcnya deneyimi<\/a><ul><li><a href=\"#alt-and-ast-levels\">ALT ve AST D\u00fczeyleri<\/a><\/li><li><a href=\"#creatine-kinase-ck-levels\">Kreatin Kinaz (CK) Seviyeleri<\/a><\/li><li><a href=\"#n-1\">NSAA Puan\u0131<\/a><\/li><\/ul><\/li><li><a href=\"#conclusion\">Sonu\u00e7<\/a><\/li><\/ul><\/nav><\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"how-much-micro-dystrophin-is-produced-by-elevidys\">Elevidys ne kadar mikro-distrofin \u00fcretir?<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Elevidys'nin resmi web sitesinde yay\u0131nlanan bilgilere g\u00f6re, t\u00fcm klinik \u00e7al\u0131\u015fmalarda kat\u0131l\u0131mc\u0131lar 3 ayl\u0131k tedavi sonras\u0131nda ortalama 34% ila 51% ELEVIDYS mikrodistrofin \u00fcretti. Ancak bu miktar\u0131n ne kadar normal distrofine denk geldi\u011fi belirtilmemi\u015ftir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/dmdwarrior.com\/tr\/fda-rejection-letter-vyondys-53-golodirsen\/\" target=\"_blank\" rel=\"noreferrer noopener\">Vyondys 53 ekzon atlama terapisinde distrofin art\u0131\u015f\u0131na bak\u0131n.<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"elevidys-alan-cocuklarda-north-star-ambulatuvar-degerlendirmesi-bazen-nsaa-veya-north-star-olarak-da-adlandirilir-puani-ne-kadar-artti\">Elevidys alan \u00e7ocuklarda NSAA skoru ne kadar artt\u0131?<\/h2>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"what-is-north-star-ambulatory-assessment-nsaa\">North Star Ambulatuvar De\u011ferlendirmesi (NSAA) nedir?<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Toplam puan 0-34 aras\u0131ndad\u0131r ve daha y\u00fcksek puan daha y\u00fcksek bir fonksiyon seviyesini g\u00f6sterir. \u0130ki zamanl\u0131 test i\u00e7erir. Yerden zamanl\u0131 kalk\u0131\u015f (RFF) ve zamanl\u0131 10 metre y\u00fcr\u00fcme\/ko\u015fu testi (10MWR). Klinik \u00e7al\u0131\u015fmalarda ve klinikte do\u011frulanm\u0131\u015f ve d\u00fczenli olarak kullan\u0131lmaktad\u0131r. <strong>Devam\u0131n\u0131 oku<\/strong>: <a href=\"https:\/\/dmdwarrior.com\/tr\/north-star-ambulatory-assessment-nsaa-in-duchenne-dmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">NSAA<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Elevidys&#039;nin resmi internet sitesinde yay\u0131nlanan bilgiye g\u00f6re, gen tedavisi g\u00f6ren \u00e7ocuklarda 34 puanl\u0131k NSAA testinde 2,6 puanl\u0131k art\u0131\u015f, gen tedavisi g\u00f6rmeyen \u00e7ocuklarda ise 1,9 puanl\u0131k art\u0131\u015f g\u00f6r\u00fcld\u00fc. <strong>Bu, Elevidys gen tedavisi almayan \u00e7ocuklarda da iyile\u015fme g\u00f6r\u00fcld\u00fc\u011f\u00fc anlam\u0131na geliyor.<\/strong> &gt;&gt;&gt; <a href=\"https:\/\/www.elevidys.com\/about-elevidys\/results-ambulatory\" target=\"_blank\" rel=\"noreferrer noopener\">Elevidys<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">EMA raporuna g\u00f6re bu art\u0131\u015f sadece 0,65 puan oldu. &gt;&gt;&gt; <a href=\"https:\/\/dmdwarrior.com\/tr\/why-elevidys-was-not-approved-by-the-european-medicines-agency-ema\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD Sava\u015f\u00e7\u0131s\u0131<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"what-level-of-improvement-was-observed-in-children-who-were-administered-elevidys\">Elevidys uygulanan \u00e7ocuklarda ne d\u00fczeyde iyile\u015fme g\u00f6zlendi?<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ELEVIDYS alanlar, plasebo alanlara (ELEVIDYS almayanlara) g\u00f6re 1 y\u0131l sonra (ortalama) yerden 0,64 saniye daha h\u0131zl\u0131 kalkabildiler &gt;&gt;&gt; <a href=\"https:\/\/www.institut-myologie.org\/en\/2023\/11\/20\/mixed-efficacy-results-for-srp-9001-elevidys-a-gene-therapy-approved-in-the-usa-for-dmd\/\" target=\"_blank\" rel=\"noreferrer noopener\">SRP-9001 (Elevidys) i\u00e7in etkinlik sonu\u00e7lar\u0131<\/a><\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ELEVIDYS alanlar, 1 y\u0131l sonra (ortalama olarak) plasebo alanlara (ELEVIDYS almayanlara) g\u00f6re 10 metreyi 0,42 saniye daha h\u0131zl\u0131 y\u00fcr\u00fcyebildiler\/ko\u015fabildiler &gt;&gt;&gt; <a href=\"https:\/\/www.elevidys.com\/about-elevidys\/results-ambulatory\" target=\"_blank\" rel=\"noreferrer noopener\">Ayakta tedavi sonu\u00e7lar\u0131<\/a><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"what-we-do-know-about-micro-dystrophin-increase\">Mikro-distrofin art\u0131\u015f\u0131 hakk\u0131nda bildiklerimiz<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Onay \u00f6zetine g\u00f6re, FDA, ELEVIDYS&#039;in tedavi edilen hastalar\u0131n iskelet kaslar\u0131nda mikro-distrofin proteininin ekspresyonunu art\u0131rd\u0131\u011f\u0131n\u0131 buldu. &gt;&gt;&gt; <a href=\"https:\/\/investorrelations.sarepta.com\/news-releases\/news-release-details\/sarepta-therapeutics-announces-fda-approval-elevidys-first-gene\" target=\"_blank\" rel=\"noreferrer noopener\">yat\u0131r\u0131mc\u0131ili\u015fkileri.sarepta.com<\/a><\/li>\n\n\n\n<li>Bir derleme makalesinde (\u00f6n bask\u0131) \u015f\u00f6yle deniyor: \u201c48 hafta sonra, tedavi edilen hastalarda western blot \u00fczerinde ortalama ~28 % mikrodistrofin ekspresyonu g\u00f6r\u00fcld\u00fc.\u201d &gt;&gt;&gt; <a href=\"https:\/\/www.preprints.org\/manuscript\/202506.2161\/download\/final_file\" target=\"_blank\" rel=\"noreferrer noopener\">\u00f6nbask\u0131lar.org<\/a><\/li>\n\n\n\n<li>EMBARK \u00e7al\u0131\u015fmas\u0131yla ilgili duyuruda, &#039;B\u00f6l\u00fcm 1&#039;de tedavi edilen hastalarda, dozlamadan 64 hafta sonra al\u0131nan biyopsiler, western blot ile \u00f6l\u00e7\u00fcld\u00fc\u011f\u00fcnde, 12. haftadaki biyopsilere k\u0131yasla ELEVIDYS mikro-distrofinin tutarl\u0131 ve s\u00fcrekli ekspresyonunu g\u00f6sterdi ve g\u00f6zlemlenen fonksiyonel sonu\u00e7lar i\u00e7in biyolojik destek sa\u011flad\u0131.&#039; denildi. Ancak duyuruda, ne kadar mikro-distrofin \u00fcretildi\u011fi ve zaman i\u00e7inde seviyesini ne kadar iyi korudu\u011funa dair rakamlar a\u00e7\u0131klanmad\u0131. &gt;&gt;&gt; <a href=\"https:\/\/sarepta.gcs-web.com\/news-releases\/news-release-details\/sarepta-therapeutics-announces-results-part-2-embark-study\" target=\"_blank\" rel=\"noreferrer noopener\">sarepta.gcs-web.com<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Dolay\u0131s\u0131yla, mevcut bir rakam, tedavi edilen grupta (bu k\u00fc\u00e7\u00fck \u00e7al\u0131\u015fmada) ~48. haftada normale g\u00f6re yakla\u015f\u0131k 28% ekspresyonunun (Western Blot&#039;ta) oldu\u011funu g\u00f6stermektedir. Ancak:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Bu \u00f6l\u00e7\u00fcmde \u201c100%\u201d ifadesinin (normal sa\u011fl\u0131kl\u0131 distrofin d\u00fczeyleri) ne anlama geldi\u011fi her zaman net de\u011fildir.<\/li>\n\n\n\n<li>Daha geni\u015f denemede fonksiyonel iyile\u015fme (motor sonlan\u0131m noktalar\u0131) birincil sonlan\u0131m noktas\u0131n\u0131 kar\u015f\u0131lamad\u0131. &gt;&gt;&gt; <a href=\"https:\/\/www.medscape.com\/viewarticle\/ema-says-no-duchenne-gene-therapyelevidys-2025a1000jqs\" target=\"_blank\" rel=\"noreferrer noopener\">Medscape<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Dolay\u0131s\u0131yla, mikrodistrofin d\u00fczeyleri artarken, kesin b\u00fcy\u00fckl\u00fc\u011f\u00fc de\u011fi\u015fmektedir, uzun vadeli dayan\u0131kl\u0131l\u0131\u011f\u0131 hala ara\u015ft\u0131r\u0131lmaktad\u0131r ve klinik faydaya d\u00f6n\u00fc\u015f\u00fcm\u00fc belirsizli\u011fini korumaktad\u0131r.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"what-we-do-not-yet-know-clearly-about-ck-decrease\">CK azalmas\u0131 hakk\u0131nda hen\u00fcz net olarak bilmedi\u011fimiz \u015feyler<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">\u0130nceledi\u011fimiz kamu d\u00fczenleyici belgeler ve yay\u0131nlarda, DMD&#039;li \u00e7ocuklarda ELEVIDYS&#039;ten sonra CK (kreatin kinaz) d\u00fczeylerinin ne kadar azald\u0131\u011f\u0131na dair net bir \u015fekilde yay\u0131nlanm\u0131\u015f, sa\u011flam bir de\u011fer bulunmamaktad\u0131r. \u00d6nemli noktalar:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>FDA geni\u015fleme onay beyan\u0131nda, dikkate al\u0131nan kan\u0131tlar\u0131n toplam\u0131n\u0131n, di\u011fer son noktalar aras\u0131nda \u201ckreatin kinaz d\u00fczeylerinde iyile\u015fme\u201d oldu\u011fu belirtiliyor. &gt;&gt;&gt; <a href=\"https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-expands-approval-gene-therapy-patients-duchenne-muscular-dystrophy\" target=\"_blank\" rel=\"noreferrer noopener\">ABD G\u0131da ve \u0130la\u00e7 Dairesi<\/a><\/li>\n\n\n\n<li>Ancak hakemli literat\u00fcrde (en az\u0131ndan eri\u015filebilen kaynaklarda) \u201cCK, X% taraf\u0131ndan ortalama Y hafta\/ayda azald\u0131\u201d \u015feklinde yay\u0131nlanm\u0131\u015f bir rakama rastlamad\u0131k.<\/li>\n\n\n\n<li>Sonu\u00e7lar\u0131n \u00e7o\u011fu ke\u015ffedici veya ikincil sonlan\u0131m noktalar\u0131 olarak kalmaya devam ediyor; EMBARK&#039;taki birincil i\u015flevsel sonlan\u0131m noktas\u0131 (NSAA) 52. haftada istatistiksel \u00f6neme (~0,65 puanl\u0131k fark) ula\u015fmad\u0131. &gt;&gt;&gt; <a href=\"https:\/\/www.medscape.com\/viewarticle\/ema-says-no-duchenne-gene-therapyelevidys-2025a1000jqs\" target=\"_blank\" rel=\"noreferrer noopener\">Medscape<\/a><\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">Bu nedenle, CK d\u00fczeylerinin d\u00fc\u015febilece\u011fine dair belirtiler olsa da, d\u00fc\u015f\u00fc\u015f derecesi (\u00f6rne\u011fin, y\u00fczdelik azalma, mutlak birimler) \u00e7ok say\u0131da b\u00fcy\u00fck \u00e7al\u0131\u015fmada kamuoyuna iyi bir \u015fekilde tan\u0131mlanmam\u0131\u015ft\u0131r (veya en az\u0131ndan hen\u00fcz kolayca eri\u015filebilir bir bi\u00e7imde yay\u0131nlanmam\u0131\u015ft\u0131r).<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"why-the-data-gap-matters\">Veri bo\u015flu\u011funun \u00f6nemi nedir?<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>CK, DMD&#039;de kas hasar\u0131n\u0131\/s\u0131z\u0131nt\u0131s\u0131n\u0131 izlemek i\u00e7in yayg\u0131n olarak kullan\u0131lan bir biyobelirte\u00e7tir. CK&#039;da \u00f6nemli bir d\u00fc\u015f\u00fc\u015f, devam eden kas hasar\u0131n\u0131n azald\u0131\u011f\u0131n\u0131 g\u00f6sterebilir.<\/li>\n\n\n\n<li>Distrofin (veya mikro-distrofin) ekspresyonu mekanik bir belirte\u00e7tir: Tedavinin tasarland\u0131\u011f\u0131 \u015feyi yapt\u0131\u011f\u0131n\u0131 g\u00f6sterir.<\/li>\n\n\n\n<li>Ancak mikrodistrofin art\u0131p CK azalsa bile as\u0131l soru \u015fu: <strong>Bu, anlaml\u0131 i\u015flevsel\/motor fayda, daha uzun y\u00fcr\u00fcy\u00fc\u015f, daha iyi ya\u015fam kalitesi anlam\u0131na m\u0131 geliyor?<\/strong><\/li>\n\n\n\n<li>B\u00fcy\u00fck Faz 3 denemesinin birincil motor son noktas\u0131na ula\u015famam\u0131\u015f olmas\u0131 dikkat \u00e7ekicidir: Protein ifadesindeki art\u0131\u015f otomatik olarak b\u00fcy\u00fck i\u015flevsel kazan\u0131mlar\u0131 garanti etmez. &gt;&gt;&gt; <a href=\"https:\/\/www.medscape.com\/viewarticle\/ema-says-no-duchenne-gene-therapyelevidys-2025a1000jqs\" target=\"_blank\" rel=\"noreferrer noopener\">Medscape<\/a><\/li>\n\n\n\n<li>Avrupa \u0130la\u00e7 Ajans\u0131 (EMA) gibi d\u00fczenleyici kurumlar daha \u015f\u00fcpheciydi: EMA&#039;nin CHMP&#039;si, mikro-distrofin \u00fcretimine ra\u011fmen yetersiz i\u015flevsel fayday\u0131 gerek\u00e7e g\u00f6stererek Temmuz 2025&#039;te Elevidys i\u00e7in pazarlama yetkisi verilmemesini \u00f6nerdi. &gt;&gt;&gt; <a href=\"https:\/\/dmdwarrior.com\/tr\/why-elevidys-was-not-approved-by-the-european-medicines-agency-ema\/\" target=\"_blank\" rel=\"noreferrer noopener\">DMD Sava\u015f\u00e7\u0131s\u0131<\/a><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"what-this-means-for-children-families-and-clinicians\">Bunun \u00e7ocuklar\/aileler ve klinisyenler i\u00e7in anlam\u0131 nedir?<\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ELEVIDYS&#039;i d\u00fc\u015f\u00fcnen bir aile veya klinisyen iseniz, mikro-distrofin ekspresyonunun artt\u0131\u011f\u0131n\u0131 bilmek ger\u00e7ek\u00e7idir (\u00f6rne\u011fin, bir \u00e7al\u0131\u015fmada ~28%) ancak uzun vadeli ger\u00e7ek d\u00fcnya kullan\u0131m\u0131nda net, anlaml\u0131 i\u015flevsel faydaya d\u00f6n\u00fc\u015f\u00fcm\u00fc hala do\u011frulanma a\u015famas\u0131ndad\u0131r.<\/li>\n\n\n\n<li>CK azalma rakamlar\u0131 net olarak tan\u0131mlanmad\u0131\u011f\u0131\/tutarl\u0131 bir \u015fekilde yay\u0131nlanmad\u0131\u011f\u0131 i\u00e7in CK&#039;nin belirli bir oranda d\u00fc\u015fece\u011fi varsay\u0131lmamal\u0131d\u0131r; CK&#039;nin izlenmesi ara\u015ft\u0131rma\/klinik takibinin bir par\u00e7as\u0131 olmaya devam etmektedir, ancak beklentiler \u00f6l\u00e7\u00fcl\u00fc olmal\u0131d\u0131r.<\/li>\n\n\n\n<li>Takip\/do\u011frulama \u00e7al\u0131\u015fmalar\u0131na (EMBARK gibi) kat\u0131lmak veya bunlar\u0131 takip etmek ve hem kas biyobelirte\u00e7lerini (distrofin ekspresyonu, CK) hem de fonksiyonel son noktalar\u0131 (y\u00fcr\u00fcme, zamanl\u0131 testler, solunum\/kardiyak durum) izlemek kritik \u00f6neme sahip olmaya devam etmektedir.<\/li>\n\n\n\n<li>Gen tedavisi tek seferlik ve \u00e7ok maliyetli oldu\u011fundan (ilk fiyatland\u0131rman\u0131n tart\u0131\u015fmalarda milyonlarca dolar civar\u0131nda oldu\u011fu bildirilmi\u015ftir) ve bilinen g\u00fcvenlik riskleri ta\u015f\u0131d\u0131\u011f\u0131ndan (\u00f6rne\u011fin karaci\u011fer hasar\u0131) karar verilirken bilinen ve bilinmeyenler g\u00f6z \u00f6n\u00fcnde bulundurulmal\u0131d\u0131r.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"n\">Duchenne&#039;de Lizozomal Hasar Hakk\u0131nda Yeni Ara\u015ft\u0131rma<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Gen tedavisi (delandistrojen moxeparvovec), ayakta tedavi g\u00f6ren hastalar i\u00e7in G\u0131da ve \u0130la\u00e7 Dairesi (FDA) onay\u0131 alm\u0131\u015f olsa da, hastalardaki fonksiyonel iyile\u015fmeler klinik \u00f6ncesi beklentilerin alt\u0131nda kalm\u0131\u015ft\u0131r. Bu s\u0131n\u0131rl\u0131 klinik fayda, tam uzunlukta distrofinde bulunan belirli fonksiyonel alanlar\u0131n eksikli\u011fi de dahil olmak \u00fczere \u00e7e\u015fitli fakt\u00f6rlere ba\u011flanabilir. Bu nedenle, gen transferi kastaki t\u00fcm patolojik mekanizmalar\u0131 tersine \u00e7eviremeyebilir. Gen tedavisiyle d\u00fczeltilemeyen spesifik patolojik mekanizmalar\u0131 belirlemek ve bu mekanizmalar\u0131 hedefleyen tamamlay\u0131c\u0131 tedavilerle birlikte kombine yakla\u015f\u0131mlar\u0131 ara\u015ft\u0131rmak \u00e7ok \u00f6nemlidir. &gt;&gt;&gt; Devam\u0131n\u0131 Oku: <a href=\"https:\/\/www.science.org\/doi\/10.1126\/sciadv.adv6805\" target=\"_blank\" rel=\"noreferrer noopener\">Lizozomal hasar, Duchenne kas distrofisinde terap\u00f6tik bir hedeftir<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"real-world-experience-with-elevidys-gene-therapy-report-from-qatar\">Katar&#039;dan Elevidys gen terapisi raporuyla ilgili ger\u00e7ek d\u00fcnya deneyimi<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">Katar&#039;da y\u00fcr\u00fct\u00fclen bu \u00e7al\u0131\u015fmada, Duchenne Musk\u00fcler Distrofi (DMD) nedeniyle gen tedavisi g\u00f6ren sekiz hastada 30 haftal\u0131k takip s\u00fcresince \u00e7e\u015fitli biyobelirte\u00e7lerin (AST, ALT, CK, Troponin I ve GGT) d\u00fczeyleri izlendi. <strong>Kaynak<\/strong>: <a href=\"https:\/\/www.nature.com\/articles\/s41434-025-00580-3\" target=\"_blank\" rel=\"noopener\">Nature.com<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">\u00c7al\u0131\u015fman\u0131n \u00f6ne \u00e7\u0131kan noktalar\u0131n\u0131 sizlerle payla\u015f\u0131yoruz:<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"alt-and-ast-levels\">ALT ve AST D\u00fczeyleri<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">ALT ve AST d\u00fczeylerinde ilk haftada bir d\u00fc\u015f\u00fc\u015f, ard\u0131ndan 2-3. haftalarda hafif dalgalanmalar ve k\u00fc\u00e7\u00fck bir art\u0131\u015f g\u00f6r\u00fcld\u00fc; ard\u0131ndan 4. haftadan itibaren bir stabilizasyon e\u011filimi g\u00f6zlendi. 14. haftadan itibaren, daha gen\u00e7 hastalarda kademeli bir art\u0131\u015f g\u00f6r\u00fcld\u00fc ve 26. haftaya yak\u0131n bir zamanda zirveye ula\u015farak ikinci hafta civar\u0131nda ba\u015flang\u0131\u00e7taki inf\u00fczyon sonras\u0131 seviyelere geri d\u00f6nd\u00fc.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"creatine-kinase-ck-levels\">Kreatin Kinaz (CK) Seviyeleri<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">Takipler s\u0131ras\u0131nda CK en \u00f6nemli ilk yan\u0131t\u0131 g\u00f6sterdi ve ilk haftada 44.1%&#039;lik keskin bir d\u00fc\u015f\u00fc\u015f g\u00f6sterdi. Seviyeler d\u00fc\u015fmeye devam etti ve 4. hafta civar\u0131nda en d\u00fc\u015f\u00fck noktas\u0131na ula\u015ft\u0131. <strong>Ancak CK d\u00fczeyleri 7. haftaya gelindi\u011finde anlaml\u0131 olarak 84.2%&#039;ye y\u00fckseldi.<\/strong> Bu model, tedaviye g\u00fc\u00e7l\u00fc bir ba\u015flang\u0131\u00e7 yan\u0131t\u0131 oldu\u011funu, bunun da kas onar\u0131m\u0131n\u0131 veya kas hasar\u0131n\u0131n azalmas\u0131n\u0131 yans\u0131tt\u0131\u011f\u0131n\u0131 ve ard\u0131ndan v\u00fccudun uyum sa\u011flamas\u0131yla dalgalanan bir faz\u0131n geldi\u011fini g\u00f6stermektedir.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"n-1\">NSAA Puan\u0131<\/h3>\n\n\n\n<p class=\"wp-block-paragraph\">T\u00fcm ebeveynler gen tedavisi ald\u0131ktan sonraki iki ay i\u00e7inde olumlu fonksiyonel de\u011fi\u015fiklikler bildirdiler, ancak be\u015fte d\u00f6rd\u00fc tedavi sonras\u0131 kilo al\u0131m\u0131 konusunda endi\u015felerini dile getirdi. Bir hasta hareketsiz kald\u0131 ve 10MWT i\u00e7in zamanlama yapamad\u0131 veya yerden y\u00fckselemedi. Di\u011ferleri aras\u0131nda, biri iki ay i\u00e7inde 10MWT h\u0131z\u0131nda kademeli iyile\u015fme g\u00f6sterdi, ikisi d\u00fc\u015f\u00fc\u015f g\u00f6sterdi ve biri de\u011fi\u015fmeden kald\u0131. Bu sonu\u00e7lar, ebeveyn g\u00f6zlemleriyle birlikte de\u011ferlendirildi\u011finde, steroid kaynakl\u0131 kilo al\u0131m\u0131n\u0131n gen tedavisi sonras\u0131 hasta fonksiyonlar\u0131n\u0131 etkileyebilece\u011fini d\u00fc\u015f\u00fcnd\u00fcrmektedir.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Delandistrogene moxeparvovec&#039;in DMD hastalar\u0131n\u0131n tedavisindeki g\u00fcvenli\u011fini ve etkinli\u011fini daha fazla do\u011frulamak i\u00e7in daha geni\u015f ger\u00e7ek d\u00fcnya verilerine ihtiya\u00e7 vard\u0131r.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Daha fazla bilgi edin<\/strong>: <a href=\"https:\/\/dmdwarrior.com\/tr\/biomarkers-in-duchenne-muscular-dystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">NSAA Tek Ba\u015f\u0131na Yeterli De\u011fil: Kreatin Kinaz (CK), AST, ALT ve Distrofin D\u00fczeyleri Neden Kamuoyuna A\u00e7\u0131klanmal\u0131?<\/a><\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"conclusion\">Sonu\u00e7<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Evet, ELEVIDYS ile tedavi kaslarda mikro-distrofin ekspresyonunun artmas\u0131na neden olur (bir \u00e7al\u0131\u015fmada ~28% gibi say\u0131larla).<\/li>\n\n\n\n<li>CK azalmas\u0131n\u0131n derecesi hen\u00fcz yeterince kamuoyuna a\u00e7\u0131klanmam\u0131\u015f veya hakemli, geni\u015f \u00f6l\u00e7ekli \u00e7al\u0131\u015fmalarda sa\u011flam bir \u015fekilde karakterize edilmemi\u015ftir; bu nedenle bu konu &quot;merak konusu&quot; olmaya devam etmektedir.<\/li>\n\n\n\n<li>Uzun vadeli fonksiyonel fayda hen\u00fcz do\u011frulanma a\u015famas\u0131ndad\u0131r; bu da biyobelirte\u00e7 iyile\u015ftirmelerinin (distrofin art\u0131\u015f\u0131, CK muhtemelen d\u00fc\u015f\u00fc\u015f\u00fc) cesaret verici oldu\u011fu ancak hen\u00fcz motor sonu\u00e7lar\u0131nda iyile\u015fmenin kesin garantisi olmad\u0131\u011f\u0131 anlam\u0131na gelir.<\/li>\n\n\n\n<li>Do\u011frulay\u0131c\u0131 \u00e7al\u0131\u015fmalardan ve ger\u00e7ek d\u00fcnya kay\u0131tlar\u0131ndan ek veriler ortaya \u00e7\u0131kt\u0131k\u00e7a, CK azalmas\u0131, kal\u0131c\u0131 olarak devam eden distrofin\/mikro-distrofin ve motor fonksiyonla korelasyon konusunda daha ayr\u0131nt\u0131l\u0131 say\u0131lar g\u00f6rmeyi bekliyoruz; bu da ailelerin ve klinisyenlerin daha bilin\u00e7li kararlar almas\u0131na yard\u0131mc\u0131 olacak.<\/li>\n<\/ul>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Daha fazla bilgi edin<\/strong>:&nbsp;<a href=\"https:\/\/dmdwarrior.com\/tr\/frequently-asked-questions-about-elevidys-used-for-duchenne-muscular-dystrophy\/\" target=\"_blank\" rel=\"noreferrer noopener\">Elevidys Hakk\u0131nda S\u0131k\u00e7a Sorulan Sorular<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>It remains a matter of curiosity how much Creatine Kinase (CK) levels decrease, NSAA score and normal dystrophin levels increase in children with DMD who receive ELEVIDYS (delandistrogene moxeparvovec-rokl), one of the world&#8217;s most expensive therapies developed by Sarepta Therapeutics for Duchenne muscular dystrophy. ELEVIDYS (delandistrogene moxeparvovec-rokl), developed by Sarepta Therapeutics, is a one-time AAV [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":5211,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[282],"tags":[121,33,179,203,65],"class_list":["post-4942","post","type-post","status-publish","format-standard","has-post-thumbnail","category-editorials","tag-delandistrogene-moxeparvovec","tag-elevidys","tag-elevidys-gene-therapy","tag-roche","tag-sarepta"],"_links":{"self":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/4942","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/comments?post=4942"}],"version-history":[{"count":0,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/posts\/4942\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media\/5211"}],"wp:attachment":[{"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/media?parent=4942"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/categories?post=4942"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dmdwarrior.com\/tr\/wp-json\/wp\/v2\/tags?post=4942"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}