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000304479 1001_ $$aWurster, Claudia D$$b0
000304479 245__ $$aRespiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.
000304479 260__ $$aLondon$$bBioMed Central$$c2025
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000304479 520__ $$aNatural history data show that respiratory function is impaired in SMA patients. Observational studies have shown stabilization of respiratory function in adult SMA patients treated with nusinersen. However, long-term studies investigating the effect of nusinersen on respiratory function in adult SMA patients are rare.We examined respiratory function using forced vital capacity of predicted normal (FVC%), FVC in liters, capacity per second (FEV1) and peak expiratory flow (PEF) in 192 adult SMA patients treated with nusinersen for a median of 3.2 years (IQR: 2.1–4.0, range: 0.2–5.2). Changes in spirometric parameters were analyzed using individual linear regression models separate in each patient to estimate the slope. Additionally, three multivariable models were performed to assess the effect of age, sex, treatment duration, baseline FVC% and each one of the variables of interest (1) SMA type, (2) ambulation status, (3) spondylodesis on follow-up FVC%. Associations between respiratory parameters and motor function (HFMSE) were investigated via Scatter plots and Spearman’s rank correlation.Spirometric parameters remained stable during treatment (median annual rate of change of FVC% 0.17% (p = 0.40), FVC in liters -0.002 (p = 0.59), FEV1 -0.014 l (p = 0.06) and PEF 0.025 l/s (p = 0.65)). In all multivariable models, age, sex, treatment duration, SMA type, ambulation status, and spondylodesis showed no significant association with follow-up FVC%. No significant correlations were observed between respiratory and motor function.Respiratory parameters remained stable during treatment with nusinersen in adult SMA patients over several years.Not applicable.
000304479 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
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000304479 650_7 $$2Other$$aAdult patients
000304479 650_7 $$2Other$$aForced vital capacity (FVC)
000304479 650_7 $$2Other$$aNusinersen
000304479 650_7 $$2Other$$aRespiratory function
000304479 650_7 $$2Other$$aSpinal muscular atrophy (SMA)
000304479 7001_ $$aStolte, Benjamin$$b1
000304479 7001_ $$0P:(DE-He78)5c2c9cbe6ce72553684d82d94aebdadd$$aKessler, Tobias$$b2$$udkfz
000304479 7001_ $$aFreigang, Maren$$b3
000304479 7001_ $$aBjelica, Bogdan$$b4
000304479 7001_ $$aIlse, Benjamin$$b5
000304479 7001_ $$aKoch, Jan C$$b6
000304479 7001_ $$aCordts, Isabell$$b7
000304479 7001_ $$aMensch, Alexander$$b8
000304479 7001_ $$aZeller, Daniel$$b9
000304479 7001_ $$aUzelac, Zeljko$$b10
000304479 7001_ $$aSam, Georges$$b11
000304479 7001_ $$aLapp, Hanna Sophie$$b12
000304479 7001_ $$aWohnrade, Camilla$$b13
000304479 7001_ $$aRödiger, Annekathrin$$b14
000304479 7001_ $$aMuhandes, Mohamad Tareq$$b15
000304479 7001_ $$aSchneider, Ilka$$b16
000304479 7001_ $$aBellut, Julia$$b17
000304479 7001_ $$aNentwich, Julia$$b18
000304479 7001_ $$aDorst, Johannes$$b19
000304479 7001_ $$aSchuster, Joachim$$b20
000304479 7001_ $$aSchreiber-Katz, Olivia$$b21
000304479 7001_ $$aOsmanovic, Alma$$b22
000304479 7001_ $$aTotzeck, Andreas$$b23
000304479 7001_ $$aThimm, Andreas$$b24
000304479 7001_ $$aSteinbach, Robert$$b25
000304479 7001_ $$aGrosskreutz, Julian$$b26
000304479 7001_ $$aKleinschnitz, Christoph$$b27
000304479 7001_ $$aLudolph, Albert C$$b28
000304479 7001_ $$aDeschauer, Marcus$$b29
000304479 7001_ $$aKirschner, Janbernd$$b30
000304479 7001_ $$aDreyhaupt, Jens$$b31
000304479 7001_ $$aWollinsky, Kurt$$b32
000304479 7001_ $$aPetri, Susanne$$b33
000304479 7001_ $$aWeiler, Markus$$b34
000304479 7001_ $$aHagenacker, Tim$$b35
000304479 7001_ $$aGünther, René$$b36
000304479 773__ $$0PERI:(DE-600)2225857-7$$a10.1186/s13023-025-04009-3$$gVol. 20, no. 1, p. 476$$n1$$p476$$tOrphanet journal of rare diseases$$v20$$x1750-1172$$y2025
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