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@ARTICLE{Mix:164206,
      author       = {Mix, Lucas and Winter, Benedikt and Wurster, Claudia and
                      Platen, Sophia and Witzel, Simon and Uzelac, Zeljko and
                      Graf, Heiko and Ludolph, Albert C and Lulé, Dorothée},
      title        = {{Q}uality of {L}ife in {SMA} {P}atients {U}nder {T}reatment
                      {W}ith {N}usinersen.},
      journal      = {Frontiers in neurology},
      volume       = {12},
      issn         = {1664-2295},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {DZNE-2022-00862},
      pages        = {626787},
      year         = {2021},
      abstract     = {Background: Spinal Muscular Atrophy (SMA) is a severe
                      neurodegenerative disease, characterized by progressive
                      muscle weakness and atrophy. The approval of the antisense
                      oligonucleotide (ASO) nusinersen now provides an effective
                      pharmacological approach with the potential to slow down or
                      stop disease progression with a potentially major impact on
                      patients' well-being. Objective: This study evaluates
                      quality of life (QoL) in pediatric and adult patients over
                      the course of therapy with nusinersen. Methods: Twenty-six
                      SMA patients treated with nusinersen were evaluated
                      regarding global QoL (gQoL), health-related QoL (HRQoL) and
                      depressiveness. Assessments were conducted three times over
                      the first 6 months of treatment. Applied were different
                      questionnaires: the Anamnestic Comparative Self-Assessment
                      (ACSA) for gQoL, the Short Form-36 Health Survey (SF-36) for
                      HRQoL in adult patients and the ALS Depression Inventory 12
                      Items (ADI-12) for depressiveness. The sample was matched
                      with 22 healthy controls. Results: Despite severe physical
                      restrictions, patients reported high levels of QoL and low
                      levels of depressiveness at study entry. Early disease onset
                      and low levels of physical functioning were associated with
                      better gQoL and lower levels of depressiveness. A
                      significant decrease of gQoL in patients was evident over
                      the course of the study. Still, adult patients reported a
                      significant increase in perceived health. Conclusions: Our
                      study provides first insight that SMA patients experience a
                      gQoL superior to healthy controls at start of therapy. This
                      might indicate patients' high hopes and expectations toward
                      treatment. gQoL returns to a level similar to that of
                      healthy controls over the course of therapy.},
      keywords     = {antisense oligonucleotide (Other) / depressiveness (Other)
                      / nusinersen (Spinraza) (Other) / patient reported outcome
                      (Other) / quality of life (Other) / spinal muscular atrophy
                      (Other) / well-being (Other)},
      cin          = {Clinical Study Center Ulm},
      ddc          = {610},
      cid          = {I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33854472},
      pmc          = {pmc:PMC8039289},
      doi          = {10.3389/fneur.2021.626787},
      url          = {https://pub.dzne.de/record/164206},
}