% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Wurster:304479,
      author       = {C. D. Wurster and B. Stolte and T. Kessler$^*$ and M.
                      Freigang and B. Bjelica and B. Ilse and J. C. Koch and I.
                      Cordts and A. Mensch and D. Zeller and Z. Uzelac and G. Sam
                      and H. S. Lapp and C. Wohnrade and A. Rödiger and M. T.
                      Muhandes and I. Schneider and J. Bellut and J. Nentwich and
                      J. Dorst and J. Schuster and O. Schreiber-Katz and A.
                      Osmanovic and A. Totzeck and A. Thimm and R. Steinbach and
                      J. Grosskreutz and C. Kleinschnitz and A. C. Ludolph and M.
                      Deschauer and J. Kirschner and J. Dreyhaupt and K. Wollinsky
                      and S. Petri and M. Weiler and T. Hagenacker and R.
                      Günther},
      title        = {{R}espiratory function in 192 adult patients with spinal
                      muscular atrophy ({SMA}) treated with nusinersen - a
                      multicenter observational study.},
      journal      = {Orphanet journal of rare diseases},
      volume       = {20},
      number       = {1},
      issn         = {1750-1172},
      address      = {London},
      publisher    = {BioMed Central},
      reportid     = {DKFZ-2025-01871},
      pages        = {476},
      year         = {2025},
      abstract     = {Natural history data show that respiratory function is
                      impaired in SMA patients. Observational studies have shown
                      stabilization of respiratory function in adult SMA patients
                      treated with nusinersen. However, long-term studies
                      investigating the effect of nusinersen on respiratory
                      function in adult SMA patients are rare.We examined
                      respiratory function using forced vital capacity of
                      predicted normal $(FVC\%),$ FVC in liters, capacity per
                      second (FEV1) and peak expiratory flow (PEF) in 192 adult
                      SMA patients treated with nusinersen for a median of 3.2
                      years (IQR: 2.1–4.0, range: 0.2–5.2). Changes in
                      spirometric parameters were analyzed using individual linear
                      regression models separate in each patient to estimate the
                      slope. Additionally, three multivariable models were
                      performed to assess the effect of age, sex, treatment
                      duration, baseline $FVC\%$ and each one of the variables of
                      interest (1) SMA type, (2) ambulation status, (3)
                      spondylodesis on follow-up $FVC\%.$ Associations between
                      respiratory parameters and motor function (HFMSE) were
                      investigated via Scatter plots and Spearman’s rank
                      correlation.Spirometric parameters remained stable during
                      treatment (median annual rate of change of $FVC\%$ $0.17\%$
                      (p = 0.40), FVC in liters -0.002 (p = 0.59), FEV1 -0.014 l
                      (p = 0.06) and PEF 0.025 l/s (p = 0.65)). In all
                      multivariable models, age, sex, treatment duration, SMA
                      type, ambulation status, and spondylodesis showed no
                      significant association with follow-up $FVC\%.$ No
                      significant correlations were observed between respiratory
                      and motor function.Respiratory parameters remained stable
                      during treatment with nusinersen in adult SMA patients over
                      several years.Not applicable.},
      keywords     = {Adult patients (Other) / Forced vital capacity (FVC)
                      (Other) / Nusinersen (Other) / Respiratory function (Other)
                      / Spinal muscular atrophy (SMA) (Other)},
      cin          = {B320 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)B320-20160331 / I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40922023},
      pmc          = {pmc:PMC12418672},
      doi          = {10.1186/s13023-025-04009-3},
      url          = {https://inrepo02.dkfz.de/record/304479},
}