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Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
Byrne BJ, Schoser B, Kishnani PS, Bratkovic D, Clemens PR, Goker-Alpan O, Ming X, Roberts M, Vorgerd M, Sivakumar K, van der Ploeg AT, Goldman M, Wright J, Holdbrook F, Jain V, Benjamin ER, Johnson F, Das SS, Wasfi Y, Mozaffar T. Byrne BJ, et al. Among authors: vorgerd m. J Neurol. 2024 Apr;271(4):1787-1801. doi: 10.1007/s00415-023-12096-0. Epub 2023 Dec 6. J Neurol. 2024. PMID: 38057636 Free PMC article. Clinical Trial.
ATB200-02 results show the potential benefits of cipa + mig as a long-term treatment option for Pompe disease. Trial registration number: NCT02675465 January 26, 2016....
ATB200-02 results show the potential benefits of cipa + mig as a long-term treatment option for Pompe disease. Trial registration num …
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry …
Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only s …
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Bertsche A, Vill K, Baumann M, Baumgartner M, Cordts I, Eisenkölbl A, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Horber V, Husain RA, Illsinger S, Jahnel J, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schwerin-Nagel A, Reihle C, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Trollmann R, Weiler M, Weiß C, Wiegand G, Wilichowski E, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Orphanet J Rare Dis. 2022 Oct 23;17(1):384. doi: 10.1186/s13023-022-02547-8. Orphanet J Rare Dis. 2022. PMID: 36274155 Free PMC article.
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 …
For patients with SMA type 2 and type 3, there is still a lack of sufficient evidence and long-term experience for nusinersen treatme …
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Diaz-Manera J, et al. Lancet Neurol. 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. Lancet Neurol. 2021. PMID: 34800399 Clinical Trial.
An open-label extended-treatment period is ongoing to confirm the long-term safety and efficacy of avalglucosidase alfa, with the aim for this therapy to become the new standard treatment in late-onset Pompe disease. ...
An open-label extended-treatment period is ongoing to confirm the long-term safety and efficacy of avalglucosidase alfa, with the aim …
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.
Gruhn KM, Heyer CM, Güttsches AK, Rehmann R, Nicolas V, Schmidt-Wilcke T, Tegenthoff M, Vorgerd M, Kley RA. Gruhn KM, et al. Among authors: vorgerd m. Mol Genet Metab Rep. 2015 Apr 21;3:58-64. doi: 10.1016/j.ymgmr.2015.03.010. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937398 Free PMC article.
OBJECTIVE: We analyzed quantitative muscle MRI data of lower limbs to evaluate the effects of long-term ERT on muscle parameters. METHODS: Three symptomatic LOPD patients who received ERT for five years and four untreated presymptomatic LOPD patients were included in the s …
OBJECTIVE: We analyzed quantitative muscle MRI data of lower limbs to evaluate the effects of long-term ERT on muscle parameters. MET …
Creatine for treating muscle disorders.
Kley RA, Tarnopolsky MA, Vorgerd M. Kley RA, et al. Among authors: vorgerd m. Cochrane Database Syst Rev. 2013 Jun 5;2013(6):CD004760. doi: 10.1002/14651858.CD004760.pub4. Cochrane Database Syst Rev. 2013. PMID: 23740606 Free PMC article. Review.
AUTHORS' CONCLUSIONS: High quality evidence from RCTs shows that short- and medium-term creatine treatment increases muscle strength in muscular dystrophies. ...
AUTHORS' CONCLUSIONS: High quality evidence from RCTs shows that short- and medium-term creatine treatment increases muscle strength …
Filamin C-related myopathies: pathology and mechanisms.
Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF. Fürst DO, et al. Among authors: vorgerd m. Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30. Acta Neuropathol. 2013. PMID: 23109048 Free PMC article.
The term filaminopathy was introduced after a truncating mutation in the dimerization domain of filamin C (FLNc) was shown to be responsible for a devastating muscle disease. ...
The term filaminopathy was introduced after a truncating mutation in the dimerization domain of filamin C (FLNc) was shown to be resp …
Creatine for treating muscle disorders.
Kley RA, Tarnopolsky MA, Vorgerd M. Kley RA, et al. Among authors: vorgerd m. Cochrane Database Syst Rev. 2011 Feb 16;(2):CD004760. doi: 10.1002/14651858.CD004760.pub3. Cochrane Database Syst Rev. 2011. PMID: 21328269 Updated. Review.
AUTHORS' CONCLUSIONS: High quality evidence from RCTs shows that short- and medium-term creatine treatment increases muscle strength in muscular dystrophies. ...
AUTHORS' CONCLUSIONS: High quality evidence from RCTs shows that short- and medium-term creatine treatment increases muscle strength …
Creatine for treating muscle disorders.
Kley RA, Vorgerd M, Tarnopolsky MA. Kley RA, et al. Among authors: vorgerd m. Cochrane Database Syst Rev. 2007 Jan 24;(1):CD004760. doi: 10.1002/14651858.CD004760.pub2. Cochrane Database Syst Rev. 2007. PMID: 17253521 Updated. Review.
SEARCH STRATEGY: We searched the Cochrane Neuromuscular Disease Group Register in May 2004 for randomised trials using the search term 'creatine'. We also searched the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 2, 2005) using the same searc …
SEARCH STRATEGY: We searched the Cochrane Neuromuscular Disease Group Register in May 2004 for randomised trials using the search term …