{"id":32975,"date":"2019-12-27T11:50:25","date_gmt":"2019-12-27T10:50:25","guid":{"rendered":"http:\/\/www.invarena.cz\/?p=32975"},"modified":"2019-12-27T11:51:29","modified_gmt":"2019-12-27T10:51:29","slug":"oprava-genu-zabrani-narozeni-postizeneho-ditete","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=32975","title":{"rendered":"Oprava gen\u016f zabr\u00e1n\u00ed narozen\u00ed posti\u017een\u00e9ho d\u00edt\u011bte"},"content":{"rendered":"\n

Opravu po\u0161kozen\u00fdch gen\u016f je\u0161t\u011b p\u0159ed narozen\u00edm d\u00edt\u011bte posti\u017een\u00e9ho d\u011bdi\u010dnou chorobou zvl\u00e1daj\u00ed v\u011bdci zat\u00edm jen u laboratorn\u00edch my\u0161\u00ed. P\u0159esto vid\u00ed v tomto zp\u016fsobu l\u00e9\u010dby nad\u011bji pro pacienty s \u0159adou z\u00e1va\u017en\u00fdch onemocn\u011bn\u00ed. Prvn\u00ed l\u00e9k u\u017e maj\u00ed v USA. <\/strong>

Jedin\u00e1 d\u00e1vka l\u00e9ku Zolgensma <\/strong>schv\u00e1len\u00e9ho letos americk\u00fdm \u00da\u0159adem pro potraviny a l\u00e9\u010diva stoj\u00ed v\u00edce ne\u017e dva miliony dolar\u016f. To \u010din\u00ed z t\u00e9to genov\u00e9 terapie nejdra\u017e\u0161\u00ed l\u00e9k sv\u011bta.
Zolgensma je ur\u010dena pacient\u016fm se spin\u00e1ln\u00ed svalovou atrofi\u00ed. D\u011bti, kter\u00e9 trp\u00ed rychle nastupuj\u00edc\u00ed formou spin\u00e1ln\u00ed svalov\u00e9 atrofie, um\u00edraj\u00ed obvykle do dvou let. Zolgensma je prvn\u00edm l\u00e9kem, kter\u00fd p\u0159in\u00e1\u0161\u00ed mal\u00fdm pacient\u016fm nad\u011bji na norm\u00e1ln\u00ed \u017eivot.
Brzy by mohla b\u00fdt k dispozici i nemocn\u00fdm mimo USA. Evropsk\u00e1 l\u00e9kov\u00e1 agentura projedn\u00e1v\u00e1 jej\u00ed schv\u00e1len\u00ed pro l\u00e9\u010dbu v zem\u00edch Evropsk\u00e9 unie a stejn\u00fd schvalovac\u00ed proces b\u011b\u017e\u00ed tak\u00e9 v Japonsku.
Spin\u00e1ln\u00ed svalovou atrofii vyvol\u00e1v\u00e1 defekt genu SMN1, nezbytn\u00e9ho pro norm\u00e1ln\u00ed fungov\u00e1n\u00ed motorick\u00fdch neuron\u016f. <\/p>\n\n\n\n

Lidem, kte\u0159\u00ed zd\u011bd\u00ed mutovan\u00fd gen SMN1 od obou rodi\u010d\u016f, chyb\u00ed protein, bez n\u011bho\u017e motorick\u00e9 neurony nep\u0159e\u017e\u00edvaj\u00ed. Pacienti ztr\u00e1cej\u00ed nejd\u0159\u00edv vl\u00e1du nad svaly doln\u00edch kon\u010detin. Pozd\u011bji se nemoc roz\u0161\u00ed\u0159\u00ed i na ruce a nakonec m\u016f\u017ee zas\u00e1hnout tak\u00e9 svaly nezbytn\u00e9 pro polyk\u00e1n\u00ed a d\u00fdch\u00e1n\u00ed. S chorobou se rod\u00ed jedno z 6000 a\u017e 10 000 d\u011bt\u00ed.
<\/p>\n\n\n\n

Z\u00e1kladem l\u00e9ku Zolgensma je virus upraven\u00fd genov\u00fdmi in\u017een\u00fdry tak, aby vn\u00e1\u0161el do motorick\u00fdch neuron\u016f pacient\u016f pln\u011b funk\u010dn\u00ed gen SMN1, a zajistil jim tak dostate\u010dnou produkci chyb\u011bj\u00edc\u00edho proteinu. L\u00e9k se pod\u00e1v\u00e1 jednor\u00e1zovou infuz\u00ed do \u017e\u00edly a je ur\u010den pro pacienty mlad\u0161\u00ed dvou let, u kter\u00fdch se je\u0161t\u011b choroba nesta\u010dila v\u00edc rozvinout.

V\u011bdci vyv\u00edjej\u00ed l\u00e9\u010debn\u00e9 postupy pro star\u0161\u00ed pacienty, u kter\u00fdch u\u017e choroba v\u00fdznamn\u011b pokro\u010dila. Nad\u011bje up\u00edraj\u00ed nap\u0159\u00edklad k injekc\u00edm l\u00e9ku do m\u00ed\u0161n\u00edho kan\u00e1lu.
<\/p>\n\n\n\n

N\u011bkter\u00e9 d\u011bti se rod\u00ed s po\u0161kozen\u00fdmi motorick\u00fdmi neurony. V t\u011bchto p\u0159\u00edpadech je t\u0159eba napravit d\u011bdi\u010dn\u00fd defekt je\u0161t\u011b p\u0159ed narozen\u00edm p\u0159\u00edmo v d\u011bloze.
L\u00e9\u010debn\u00e9 postupy ozna\u010dovan\u00e9 jako „l\u00e9\u010dba v d\u011bloze“ zat\u00edm v\u011bdci testuj\u00ed na zv\u00ed\u0159atech. Tureckoamerick\u00fd t\u00fdm veden\u00fd Afroozem Rashnonejadem z univerzity v Izmiru ohl\u00e1sil v l\u00e9ka\u0159sk\u00e9m \u010dasopise Molecular Therapy prvn\u00ed \u00fasp\u011b\u0161nou l\u00e9\u010dbu u spin\u00e1ln\u00ed svalov\u00e9 atrofie my\u0161\u00ed.
„Ne\u017e v\u016fbec pomysl\u00edte na l\u00e9\u010dbu pacient\u016f, mus\u00edte l\u00e9\u010dbu otestovat na my\u0161\u00edch s po\u0161kozen\u00fdm genem. A pr\u00e1v\u011b to tenhle t\u00fdm ud\u011blal,“ hodnot\u00ed v rozhovoru pro \u010dasopis The Scientist v\u00fdsledky studie Tippi MacKenzieov\u00e1 z Kalifornsk\u00e9 univerzity v San Francisku.

Ned\u00e1vno se nap\u0159\u00edklad poda\u0159ilo z\u00e1sahem do t\u011bla b\u0159ez\u00ed samice napravit u my\u0161\u00edch plod\u016f defekt genu, kter\u00fd u lid\u00ed vyvol\u00e1v\u00e1 Gaucherovu chorobu. Onemocn\u011bn\u00ed je zp\u016fsobeno poruchou genu pro enzym zaji\u0161\u0165uj\u00edc\u00ed v t\u011ble odbour\u00e1v\u00e1n\u00ed tukov\u00fdch molekul. Tukov\u00e9 molekuly se u nemocn\u00e9ho \u010dlov\u011bka hromad\u00ed v nejr\u016fzn\u011bj\u0161\u00edch tk\u00e1n\u00edch a naru\u0161uj\u00ed jejich funkci.

Slibn\u011b se r\u00fdsuje tak\u00e9 l\u00e9\u010dba t\u011b\u017ek\u00e9ho po\u0161kozen\u00ed plic vyvolan\u00e9ho poruchou genu SFTPC. D\u011bti s t\u00edmto posti\u017een\u00edm um\u00edraj\u00ed kr\u00e1tce po narozen\u00ed na plicn\u00ed kolaps. \u017divot a zdrav\u00ed jim m\u016f\u017ee zachr\u00e1nit pr\u00e1v\u011b jen l\u00e9\u010dba u\u017e v d\u011bloze.

Na ned\u00e1vn\u00e9m kongresu v\u011bnovan\u00e9m problematice genov\u00fdch terapi\u00ed v\u011bdci diskutovali o tom, kter\u00e9 postupy u\u017e zvl\u00e1dli natolik, aby s nimi mohli v dohledn\u00e9 dob\u011b postoupit k prvn\u00edm klinick\u00fdm zkou\u0161k\u00e1m na nenarozen\u00fdch d\u011btech s d\u011bdi\u010dn\u00fdm posti\u017een\u00edm.
Jako prvn\u00ed by se mohla do\u010dkat praktick\u00e9ho uplatn\u011bn\u00ed nitrod\u011blo\u017en\u00ed l\u00e9\u010dba spin\u00e1ln\u00ed svalov\u00e9 atrofie. Injekce viru s l\u00e9\u010debn\u00fdm genem do mozku plodu v mat\u010din\u011b t\u011ble p\u0159edstavuje velice n\u00e1ro\u010dn\u00fd z\u00e1krok prov\u00e1zen\u00fd \u0159adou rizik. Infuze l\u00e9\u010debn\u00e9ho viru posti\u017een\u00fdm novorozenc\u016fm se zat\u00edm jev\u00ed jako bezpe\u010dn\u011bj\u0161\u00ed.

„Zolgensma funguje u novorozenc\u016f l\u00e9pe, ne\u017e si kdokoli dok\u00e1zal p\u0159edstavit. Nen\u00ed proto jist\u00e9, \u017ee bychom m\u011bli j\u00edt s l\u00e9\u010dbou spin\u00e1ln\u00ed svalov\u00e9 atrofie p\u0159ed porod,“ vysv\u011btluje Tippi MacKenzieov\u00e1.
<\/p>\n\n\n\n

K l\u00e9\u010db\u011b lid\u00ed je v\u0161ak je\u0161t\u011b daleko. <\/p>\n","protected":false},"excerpt":{"rendered":"

Opravu po\u0161kozen\u00fdch gen\u016f je\u0161t\u011b p\u0159ed narozen\u00edm d\u00edt\u011bte posti\u017een\u00e9ho d\u011bdi\u010dnou chorobou zvl\u00e1daj\u00ed v\u011bdci zat\u00edm jen u laboratorn\u00edch my\u0161\u00ed. P\u0159esto vid\u00ed v tomto zp\u016fsobu l\u00e9\u010dby nad\u011bji pro […]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":14171,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11],"tags":[],"class_list":["post-32975","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-zdravi"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/32975","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=32975"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/32975\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/media\/14171"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=32975"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=32975"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=32975"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}