A tale of two diseases: spinal muscular atrophy and Pompe disease

Crystal J J Yeo¹, Basil T Darras²

Affiliations

¹ Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Feinberg School of Medicine, Northwestern University, Chicago IL, USA; School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK; Lee Kong Chian School of Medicine, Imperial College London and Nanyang Technology University, Singapore; Agency for Science, Technology and Research, Singapore.
² Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: basil.darras@childrens.harvard.edu.

PMID: 34822770
DOI: 10.1016/S2352-4642(21)00351-5

Comment

A tale of two diseases: spinal muscular atrophy and Pompe disease

Crystal J J Yeo et al. Lancet Child Adolesc Health. 2022 Jan.

. 2022 Jan;6(1):2-3.

doi: 10.1016/S2352-4642(21)00351-5. Epub 2021 Nov 22.

Authors

Crystal J J Yeo¹, Basil T Darras²

Affiliations

¹ Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Feinberg School of Medicine, Northwestern University, Chicago IL, USA; School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Aberdeen, UK; Lee Kong Chian School of Medicine, Imperial College London and Nanyang Technology University, Singapore; Agency for Science, Technology and Research, Singapore.
² Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: basil.darras@childrens.harvard.edu.

PMID: 34822770
DOI: 10.1016/S2352-4642(21)00351-5

No abstract available

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Conflict of interest statement

BTD reports grants and non-financial support from, and being the FIREFISH Study Steering Committee Chair and an ad-hoc scientific advisory board member for Roche/Genentech, which manufactures risdiplam; grant support from and being an ad-hoc scientific board member for Biogen, which manufactures nusinersen; non-financial support from and being an ad-hoc scientific board member for Novartis Gene Therapies (AveXis), which manufactures onasemnogene abeparvovec. Unrelated to this Comment, BTS reports grant support for the ENDEAR, CHERISH, and CS2/CS12 studies from Ionis Pharmaceuticals; grants from and being an ad-hoc scientific board member for Sarepta Pharmaceuticals; grants from PTC Therapeutics, Fibrogen, Summit, the US National Institutes of Health and National Institute of Neurological Disorders and Stroke, Slaney Family Fund for SMA, Spinal Muscular Atrophy Foundation, CureSMA, and Working on Walking Fund; being an ad-hoc scientific board member for Vertex, and a data and safety monitoring board member for Amicus Inc. CJJY declares grants from Career Development Award grant and the Agency for Science, Technology and Research.

Comment on

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM. Weiß C, et al. Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29. Lancet Child Adolesc Health. 2022. PMID: 34756190
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM, Huidekoper HH, Kruijshaar ME, Rizopoulos D, Hahn A, Mongini TE, Labarthe F, Tardieu M, Chabrol B, Brassier A, Parini R, Parenti G, van der Beek NAME, van der Ploeg AT, van den Hout JMP; European Pompe Consortium project group on classic infantile Pompe disease. Ditters IAM, et al. Lancet Child Adolesc Health. 2022 Jan;6(1):28-37. doi: 10.1016/S2352-4642(21)00308-4. Epub 2021 Nov 22. Lancet Child Adolesc Health. 2022. PMID: 34822769

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A tale of two diseases: spinal muscular atrophy and Pompe disease

Affiliations

A tale of two diseases: spinal muscular atrophy and Pompe disease

Authors

Affiliations

Conflict of interest statement

Comment on

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical