Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Zur Ergebnisliste
Ergebnis 8 von 425
Open Access
    Datensatz exportieren als...
  • BibTeX
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-384, Article 384
2022
Volltextzugriff (PDF)

Details

Autor(en) / Beteiligte
Titel
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
Ist Teil von
  • Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-384, Article 384
Ort / Verlag
London: BioMed Central Ltd
Erscheinungsjahr
2022
Quelle
EZB Electronic Journals Library
Beschreibungen/Notizen
  • The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA. For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatment. Here, we report data from the SMArtCARE registry of non-ambulant children with SMA type 2 and typen 3 under nusinersen treatment with a follow-up period of up to 38 months. SMArtCARE is a disease-specific registry with data on patients with SMA irrespective of age, treatment regime or disease severity. Data are collected during routine patient visits as real-world outcome data. This analysis included all non-ambulant patients with SMA type 2 or 3 below 18 years of age before initiation of treatment. Primary outcomes were changes in motor function evaluated with the Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM). Data from 256 non-ambulant, pediatric patients with SMA were included in the data analysis. Improvements in motor function were more prominent in upper limb: 32.4% of patients experienced clinically meaningful improvements in RULM and 24.6% in HFMSE. 8.6% of patients gained a new motor milestone, whereas no motor milestones were lost. Only 4.3% of patients showed a clinically meaningful worsening in HFMSE and 1.2% in RULM score. Our results demonstrate clinically meaningful improvements or stabilization of disease progression in non-ambulant, pediatric patients with SMA under nusinersen treatment. Changes were most evident in upper limb function and were observed continuously over the follow-up period. Our data confirm clinical trial data, while providing longer follow-up, an increased number of treated patients, and a wider range of age and disease severity.
Sprache
Englisch
Identifikatoren
ISSN: 1750-1172
eISSN: 1750-1172
DOI: 10.1186/s13023-022-02547-8
Titel-ID: cdi_doaj_primary_oai_doaj_org_article_3964177cf3a34839a500c56ee8c3ca92
Format
–
Schlagworte
Age, Care and treatment, Case reports, Children, Crippled children, Development and progression, Enteral nutrition, Ethics, Genetic aspects, Health aspects, Later-onset, Medical research, Neuromuscular diseases, Nusinersen, Patients, Pediatrics, Physically disabled children, Proteins, Rare diseases, Sitter, SMArtCARE, Spinal muscular atrophy, Statistical analysis, Ventilators

Weiterführende Literatur

Empfehlungen zum selben Thema automatisch vorgeschlagen von bX