https://m2.mtmt.hu/hun2026-09-20 21:08JournalArticle31327838VALIDATEDtrueCzövek D. was supported by János Bolyai Research Scholarship of the Hungarian Academy of Sciences, the ÚNKP-19-4-SE-96 New National Excellence Program of the Ministry of Human Capabilities and NKFI-129237.
Funding Agency and Grant Number: Janos Bolyai Research Scholarship of the Hungarian Academy of SciencesHungarian Academy of Sciences; New National Excellence Program of the Ministry of Human Capabilities [UNKP-19-4-SE-96]; [NKFI-129237]
Funding text: Czovek D. was supported by Janos Bolyai Research Scholarship of the Hungarian Academy of Sciences, the UNKP-19-4-SE-96 New National Excellence Program of the Ministry of Human Capabilities and NKFI-129237.0false2026-09-07T07:41:12.824+00002025-07-29T13:57:58.410+00002020-05-28T15:13:40.036+0000true10015544CsajbókEdit
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Categorytrue1Szabó, LénaEfficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophyReal world data from Hungarian patientstruetrue
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REVIEWEDtruefalse10003138false10003138true1090-37981532-2130JournalFOREIGN2737423762020Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a homozygous deletion of the survival motor neuron (SMN) 1 gene. Nusinersen is an antisense oligonucleotide enhancing the production of the SMN protein. It has received approval by the European Medicines Agency (EMA) in 2017, based on the clinical trials demonstrating the effectiveness of nusinersen in several types of SMA. In Hungary, the first patient received nusinersen treatment in April 2018. Our aim is to summarize our experience regarding the efficacy, safety and tolerability of nusinersen in our patients.Data were collected retrospectively in all types of SMA patients (type 1-3) starting treatment with nusinersen in Hungary between April 2018 and December 2019. Motor functions were evaluated at baseline, at the fourth and all following injections.By 31st December 2019, nusinersen therapy was initiated in 54 patients at either of the two Hungarian treatment centres. Mean age of the patients at the start of the treatment was 6.3 years (±5,4 range 0.4-17.9). 13 patients are type 1 (mean 0.78 ± 0.27, range 0.4-1.5 yrs), 21 patients are type 2 (mean 4.5 ± 3.3, range 1.3-12 yrs), 23 patients are type 3 (mean 10.9 ± 5.2, range 2.9-17.9 yrs). Fourteen patients had severe scoliosis, four of them underwent spine stabilizing surgery. During the study period 340 injections were administered without any new safety concerns emerging. The data of 38 patients, who had completed the first six treatments, were included in the final statistical analysis. Motor function has improved in most of the children. By the 307th day visit, on average, a 14.9 (±5,1) point improvement was measured on the CHOP INTEND scale in type 1 patients (p = 0.016). All patients with type 1 SMA who performed the motor evaluation (7/10) have improved by more than four (7-21) points. Regarding type 2 patients, a 7.2 (range -2- 17) point increase from baseline (p < 0.001) on the Hammersmith Functional Motor Scale Expanded (HFMSE) and 4.3 (range: 2-9) point increase (p = 0.031) on the Revised Upper Limb Module (RULM) were found. The distance of the 6 min walk test also increased by 33.9 m on average (range -16 - 106), in type 3 patients.According to our results nusinersen has the same safety and tolerability profile as in the clinical trials. In a heterogenic patient population of SMA type 1 and 2, nusinersen showed similar efficacy as seen in the pivotal studies. A clinically and statistically significant improvement of motor functions was also detectable in type 3 patients with heterogeneous age distribution.Funding2014202
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<div class="JournalArticle Publication short-list"> <div class="authors"> <span class="author-name" mtid="10023270"> <a href="/gui2/?type=authors&mode=browse&sel=10023270" target="_blank">Szabó, Léna ✉</a> </span> <span class="author-type"> </span> ; <span class="author-name" > Gergely, Anita </span> <span class="author-type"> </span> ; <span class="author-name" > Jakus, Rita </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10000227"> <a href="/gui2/?type=authors&mode=browse&sel=10000227" target="_blank">Fogarasi, András</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10040725"> <a href="/gui2/?type=authors&mode=browse&sel=10040725" target="_blank">Grosz, Zoltán</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10002781"> <a href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnár, Mária Judit</a> </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10080946"> <a href="/gui2/?type=authors&mode=browse&sel=10080946" target="_blank">Andor, Ildikó</a> </span> <span class="author-type"> </span> ; <span class="author-name" > Schulcz, Orsolya </span> <span class="author-type"> </span> ; <span class="author-name" mtid="10023774"> <a href="/gui2/?type=authors&mode=browse&sel=10023774" target="_blank">Goschler, Ádám</a> </span> <span class="author-type"> </span> ; <span class="author-name" > Medveczky, Erika </span> <span class="author-type"> </span> et al. </div ><div class="title"><a href="/gui2/?mode=browse¶ms=publication;31327838" mtid="31327838" target="_blank">Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy<span class="subTitle">: Real world data from Hungarian patients</span></a></div> <div class="pub-info"> <span class="journal-title">EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY</span> <span class="journal-volume">27</span> <span class="page"> pp. 37-42. , 6 p. </span> <span class="year">(2020)</span> </div> <div class="pub-end"><div class="identifier-list"> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1016/j.ejpn.2020.05.002" target="_blank" href="https://doi.org/10.1016/j.ejpn.2020.05.002"> DOI </a> </span> <span class="id identifier oa_RESTRICTED" title=" Korlátozott "> <a style="color:blue" title="8297" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/8297"> SE Repozitórium </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000557955600010" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000557955600010"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85085210174" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85085210174"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="32456992" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32456992&dopt=Abstract"> PubMed </a> </span> </span> </div> <div class="short-pub-prop-list"> <span class="short-pub-mtid"> Közlemény:31327838 </span> <span class="status-holder"><span class="status-data status-VALIDATED"> Egyeztetett </span></span> <span class="pub-core">Forrás </span> <span class="pub-type">Folyóiratcikk (Szakcikk ) </span> <!-- && !record.category.scientific --> <span class="pub-category">Tudományos</span> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 65</span> | Független: 61 | Függő: 4 | Nem jelölt: 0 | WoS jelölt: 57 | Scopus jelölt: 56 | WoS/Scopus jelölt: 60 | DOI jelölt: 60 </div> </div> </div> </div><div class="JournalArticle Publication long-list">
<div class="authors">
<img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png">
<div class="autype autype0"> <span class="author-name" mtid="10023270"><a
href="/gui2/?type=authors&mode=browse&sel=10023270" target="_blank">Szabó Léna ✉
(<span class="authorship-author-name">Szabó Léna</span>
<span class="authorAux-mtmt"> Gyermekgyógyászat</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Gyermekgyógyászati Klinika</span>
;
<span class="author-name" >Gergely Anita
</span>
;
<span class="author-name" >Jakus Rita
</span>
;
<span class="author-name" mtid="10000227"><a
href="/gui2/?type=authors&mode=browse&sel=10000227" target="_blank">Fogarasi András
(<span class="authorship-author-name">Fogarasi András</span>
<span class="authorAux-mtmt"> Epileptológia</span>)
</a>
</span>
<span class="author-affil">Magyarországi Református Egyház Bethesda Gyermekkórháza</span>
;
<span class="author-name" mtid="10040725"><a
href="/gui2/?type=authors&mode=browse&sel=10040725" target="_blank">Grosz Zoltán
(<span class="authorship-author-name">Grosz Zoltán</span>
<span class="authorAux-mtmt"> Neurológia</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span>
;
<span class="author-name" mtid="10002781"><a
href="/gui2/?type=authors&mode=browse&sel=10002781" target="_blank">Molnár Mária Judit
(<span class="authorship-author-name">Molnár Mária Judit</span>
<span class="authorAux-mtmt"> Neurológia</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Genomikai Medicina és Ritka Betegségek Intézete</span>
;
<span class="author-name" mtid="10080946"><a
href="/gui2/?type=authors&mode=browse&sel=10080946" target="_blank">Andor Ildikó
(<span class="authorship-author-name">Andor Ildikó</span>
<span class="authorAux-mtmt"> Gyógytornász</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Gyermekgyógyászati Klinika</span>
;
<span class="author-name" >Schulcz Orsolya
</span>
;
<span class="author-name" mtid="10023774"><a
href="/gui2/?type=authors&mode=browse&sel=10023774" target="_blank">Goschler Ádám
(<span class="authorship-author-name">Goschler Ádám</span>
<span class="authorAux-mtmt"> Gyermekgyógyászat</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Gyermekgyógyászati Klinika</span>
;
<span class="author-name" >Medveczky Erika
</span>
;
<span class="author-name" mtid="10028792"><a
href="/gui2/?type=authors&mode=browse&sel=10028792" target="_blank">Czövek Dorottya
(<span class="authorship-author-name">Czövek Dorottya</span>
<span class="authorAux-mtmt"> légzésmechanika</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/I. Sz. Gyermekgyógyászati Klinika</span>
;
<span class="author-name" mtid="10026841"><a
href="/gui2/?type=authors&mode=browse&sel=10026841" target="_blank">Herczegfalvi Ágnes
(<span class="authorship-author-name">Herczegfalvi Ágnes</span>
<span class="authorAux-mtmt"> Gyermekneurológia</span>)
</a>
</span>
<span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/II. Sz. Gyermekgyógyászati Klinika</span>
</div>
</div>
<div class="title"><a href="/gui2/?mode=browse¶ms=publication;31327838" target="_blank">Efficacy of nusinersen in type 1, 2 and 3 spinal muscular atrophy : Real world data from Hungarian patients.</a></div> <div> <span class="journal-title">EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY</span>
<span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1090-3798">1090-3798</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1532-2130">1532-2130</a>)</span>:
<span class="journal-volume">27</span>
<span class="page">
pp 37-42
</span> <span class="year">(2020)</span>
</div>
<div class="pub-footer">
<span class="language" xmlns="http://www.w3.org/1999/html">Nyelv:
Angol
| </span>
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<span class="id identifier oa_none" title="none">
<a style="color:blue" title="10.1016/j.ejpn.2020.05.002" target="_blank" href="https://doi.org/10.1016/j.ejpn.2020.05.002">
DOI
</a>
</span>
<span class="id identifier oa_RESTRICTED" title=" Korlátozott
">
<a style="color:blue" title="8297" target="_blank" href="https://repo.lib.semmelweis.hu/handle/123456789/8297">
SE Repozitórium
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<a style="color:blue" title="85085210174" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85085210174">
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<span class="id identifier oa_none" title="none">
<a style="color:blue" title="32456992" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=32456992&dopt=Abstract">
PubMed
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<OnlyViewableByAuthor><div class="ratings">
<div class="journal-subject">Folyóirat szakterülete: Scopus - Pediatrics, Perinatology and Child Health SJR indikátor: Q1</div>
<div class="journal-subject">Folyóirat szakterülete: Scopus - Medicine (miscellaneous) SJR indikátor: Q2</div>
<div class="journal-subject">Folyóirat szakterülete: Scopus - Neurology (clinical) SJR indikátor: Q2</div>
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<div class="publication-citation" style="margin-left: 0.5cm;">
<span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 65</span>
| Független: 61
| Függő: 4
| Nem jelölt: 0
| WoS jelölt: 57
| Scopus jelölt: 56
| WoS/Scopus jelölt: 60
| DOI jelölt: 60
</div>
<div class="mtid"><span class="long-pub-mtid">Közlemény: 31327838</span>
| <span class="status-data status-VALIDATED"> Egyeztetett
</span>
Forrás
| <span class="type-subtype">Folyóiratcikk
( Szakcikk
)
</span>
| <span class="pub-category">Tudományos</span>
| <span class="publication-sourceOfData">PubMed XML</span>
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<div class="funder"> János Bolyai Research Scholarship of the Hungarian Academy of Sciences, (ÚNKP-19-4-SE-96), (NKFI-129237) </div>
<div class="lastModified">Utolsó módosítás: 2025.07.29. 15:57 Csajbók Edit (SE_KK_Admin5_CSE, admin)
</div>
<pre class="comment" style="margin-top: 0; margin-bottom: 0;"><u>Megjegyzés</u>: Czövek D. was supported by János Bolyai Research Scholarship of the Hungarian Academy of Sciences, the ÚNKP-19-4-SE-96 New National Excellence Program of the Ministry of Human Capabilities and NKFI-129237.
Funding Agency and Grant Number: Janos Bolyai Research Scholarship of the Hungarian Academy of SciencesHungarian Academy of Sciences; New National Excellence Program of the Ministry of Human ...</pre>
</div></div>