Kezdeti tapasztalataink spinalis muscularis atrophiában szenvedő gyermekek intravénás génterápiájával

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dc.contributor.authorDr. Mikos Borbála
dc.contributor.authorDr. Gergely Anita
dc.contributor.authorDr. Balázsfi Réka
dc.contributor.authorDr. Bányász Edina
dc.contributor.authorDr. Gyömörei Beáta
dc.contributor.authorDr. Hantos Mónika
dc.contributor.authorDr. Czelecz Judit
dc.contributor.authorDr. Jakus Rita
dc.contributor.authorDr. Kárász Hajnalka
dc.contributor.authorDr. Zilahy Mónika
dc.contributor.authorDr. Molnár Eszter
dc.contributor.authorDr. Paraicz Éva
dc.contributor.authorDr. Csohány Ágnes
dc.contributor.authorDr. Szénási Fanni
dc.contributor.authorDr. Vendégh Lejla
dc.contributor.authorDr. Fogarasi András
dc.contributor.authorDr. Velkey György János
dc.date.accessioned2024-02-14T10:49:55Z
dc.date.available2024-02-14T10:49:55Z
dc.date.issued2020
dc.description.abstractCongenital spinal muscular atrophy is a rare, progressive neurodegenerative disease, one of the major genetic causes of childhood death. The possibilities of medicine to curb its progression and to delay and mat the disease's complications were limited before the 21st century. Therefore, children with the most severe genetic defects were usually lost before their second birthday. Advances in genetic diagnostics allow for early diagnosis, prediction of severity and expected progression. Using intrathecal nusinersen (available in Hungary since 2018), clinical results based on a large number of patients are convincing. Experience with the new intravenous gene therapy (onasemnogene abeparvovec) available from 2019 is still based on a less number of patients. It was used in Hungary in Bethesda Hospital in five children based on strict professional criteria and preparations. Our paper summarizes the most important efficacy and safety data of the first three consecutive patients. According to our experiences, the product helps to improve movement performance. Side effects are mainly reversible elevations of liver enzymes and serum troponin-I levels, thrombocytopenia and granulocytopenia. Therefore, we found that it is important to monitor patients closely on a long-term basis in order to detect and eliminate side effects early.
dc.identifier.issn0030-6002
dc.identifier.issn1788-6120
dc.identifier.mtmt31762248
dc.identifier.urihttps://krepozit.kre.hu/handle/123456789/758
dc.language.isohun
dc.relation.ispartofORVOSI HETILAP 161 42 pp 1806-1816 (2020)
dc.titleKezdeti tapasztalataink spinalis muscularis atrophiában szenvedő gyermekek intravénás génterápiájával
dc.title.alternativeOur initial experiences with intravenous gene therapy for spinal muscular atrophy in children
dc.typeArticle
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