Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study)

Author:

Yamauchi MotooORCID,Nakayama Hideaki,Shiota Satomi,Ohshima Yasuyoshi,Terada Jiro,Nishijima Tsuguo,Kosuga Motomichi,Kitamura Takuro,Tachibana Naoko,Oguri Takuya,Shirahama Ryutaro,Aoki Yasuhiro,Ishigaki Keiko,Sugie Kazuma,Yagi Tomoko,Muraki Hisae,Fujita Yukio,Takatani Tsunenori,Muro Shigeo

Funder

Investigator-Sponsored Study grant from Sanofi

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Otorhinolaryngology

Reference22 articles.

1. van der Ploeg AT, Reuser AJ (2008) Pompe’s disease. Lancet (London, England) 372(9646):1342–1353. https://doi.org/10.1016/s0140-6736(08)61555-x

2. Leslie N, Bailey L (1993) Pompe disease. In: Adam MP, Ardinger HH, Pagon RA et al (eds) . GeneReviews((R)). University of Washington, Seattle GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved., Seattle (WA)

3. van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ, Herson S, Kishnani PS, Laforet P, Lake SL, Lange DJ, Leshner RT, Mayhew JE, Morgan C, Nozaki K, Park DJ, Pestronk A, Rosenbloom B, Skrinar A, van Capelle CI, van der Beek NA, Wasserstein M, Zivkovic SA (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. the. N Engl J Med 362(15):1396–1406. https://doi.org/10.1056/NEJMoa0909859

4. Kuperus E, Kruijshaar ME, Wens SCA, de Vries JM, Favejee MM, van der Meijden JC, Rizopoulos D, Brusse E, van Doorn PA, van der Ploeg AT, van der Beek N (2017) Long-term benefit of enzyme replacement therapy in Pompe disease: a 5-year prospective study. Neurology 89(23):2365–2373. https://doi.org/10.1212/wnl.0000000000004711

5. Harlaar L, Hogrel JY, Perniconi B, Kruijshaar ME, Rizopoulos D, Taouagh N, Canal A, Brusse E, van Doorn PA, van der Ploeg AT, Laforet P, van der Beek N (2019) Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease. Neurology 93(19):e1756–e1767. https://doi.org/10.1212/wnl.0000000000008441

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