{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T20:41:50Z","timestamp":1785357710108,"version":"3.55.0"},"reference-count":0,"publisher":"Ideggyogyaszati Szemle Journal","issue":"3-4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>A spinalis izomatrophia (SMA) a betegs\u00e9g term\u00e9szetes lefoly\u00e1sa eset\u00e9n progressz\u00edv izomgyenges\u00e9ggel j\u00e1r, ami s\u00falyos esetben kiterjed a bulbaris \u00e9s l\u00e9gz\u0151izmokra is. A betegs\u00e9g klinikai megjelen\u00e9se, a t\u00fcnetek s\u00falyoss\u00e1ga heterog\u00e9n spektrumot k\u00e9pez, a legs\u00falyosabb esetben perinatalis hal\u00e1l is el\u0151fordulhat, a legenyh\u00e9bb form\u00e1ban a j\u00e1r\u00f3k\u00e9pess\u00e9get m\u00e9g feln\u0151ttkorban is meg\u0151rizheti a beteg. A spinalis izomatrophia gondoz\u00e1sa gy\u00f6keresen megv\u00e1ltozott az elm\u00falt \u00e9vek ter\u00e1pi\u00e1s fejleszt\u00e9seinek k\u00f6sz\u00f6nhet\u0151en. Az FDA 2016- ban hagyta j\u00f3v\u00e1 a nuszinerszent, amit 2019- ben az onaszemnog\u00e9n abeparvovek, majd 2020-ban a riszdipl\u00e1m k\u00f6vetett. Az EMA az FDA ut\u00e1n egy \u00e9vvel hagyta j\u00f3v\u00e1 mindh\u00e1rom ter\u00e1pi\u00e1t. A ter\u00e1pi\u00e1k k\u00f6z\u00fcl kett\u0151 pre-mRNSszinten, egy DNS-szinten hat. A j\u00f3v\u00e1hagy\u00e1st megel\u0151z\u0151 klinikai vizsg\u00e1latok k\u00fcl\u00f6nb\u00f6z\u0151 \u00e1llapot\u00fa \u00e9s \u00e9letkor\u00fa betegeket vizsg\u00e1ltak, r\u00e9szben elt\u00e9r\u0151 sk\u00e1l\u00e1kat haszn\u00e1lva, ez\u00e9rt ezek eredm\u00e9nyeinek k\u00f6zvetlen \u00f6sszehasonl\u00edt\u00e1sa nem egyszer\u0171 feladat. Az elm\u00falt n\u00e9h\u00e1ny \u00e9vben felhalmoz\u00f3dott \u201ereal-world\u201d adatok azonban egyre t\u00f6bb lehet\u0151s\u00e9get ny\u00fajtanak a val\u00f3s \u00e9letben az egyes ter\u00e1pi\u00e1k hat\u00e1soss\u00e1g\u00e1nak meg\u00edt\u00e9l\u00e9s\u00e9re a k\u00fcl\u00f6nb\u00f6z\u0151 \u00e9letkor\u00fa \u00e9s s\u00falyoss\u00e1g\u00fa esetekben. Jogosan vet\u0151dhet fel a k\u00e9rd\u00e9s, hogy \u201emelyik ter\u00e1pia a legjobb?\u201d. Ez a k\u00e9rd\u00e9s ebben a form\u00e1ban megv\u00e1laszolhatatlan. Helyesen felt\u00e9ve a k\u00e9rd\u00e9st, sokkal ink\u00e1bb arra keress\u00fck a v\u00e1laszt, hogy \u201emelyik egy\u00e9n sz\u00e1m\u00e1ra melyik ter\u00e1pia a legmegfelel\u0151bb egy adott id\u0151pontban?\u201d. K\u00f6zlem\u00e9ny\u00fcnk a h\u00e1rom ter\u00e1pia eddig el\u00e9rt, objekt\u00edven m\u00e9rhet\u0151 eredm\u00e9nyeit foglalja \u00f6ssze, \u00e9s kitekint\u00e9st ny\u00fajt a lehets\u00e9ges j\u00f6v\u0151beni ter\u00e1pi\u00e1s utakr\u00f3l.<\/jats:p>","DOI":"10.18071\/isz.76.0077","type":"journal-article","created":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T09:22:03Z","timestamp":1680168123000},"page":"77-94","source":"Crossref","is-referenced-by-count":1,"title":["A spinalis izomatrophia szem\u00e9lyre szabott ter\u00e1pi\u00e1s lehet\u0151s\u00e9gei"],"prefix":"10.18071","volume":"76","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4763-3521","authenticated-orcid":false,"given":"Katalin","family":"Szab\u00f3-Taylor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9350-1864","authenticated-orcid":false,"given":"M\u00e1ria Judit","family":"Moln\u00e1r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7411","published-online":{"date-parts":[[2023]]},"container-title":["Ideggy\u00f3gy\u00e1szati szemle"],"original-title":[],"link":[{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/personalized-treatment-options-for-spinal-muscular-atrophy\/pdf-open","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T09:22:04Z","timestamp":1680168124000},"score":1,"resource":{"primary":{"URL":"https:\/\/elitmed.hu\/en\/publications\/clinical-neuroscience\/personalized-treatment-options-for-spinal-muscular-atrophy"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":0,"journal-issue":{"issue":"3-4","published-online":{"date-parts":[[2023]]},"published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.18071\/isz.76.0077","relation":{},"ISSN":["0019-1442","2498-6208"],"issn-type":[{"value":"0019-1442","type":"print"},{"value":"2498-6208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}