Should patients with asymptomatic pompe disease be treated? A nationwide study in France

Muscle & Nerve
Andoni Echaniz-LagunaP Laforêt

Abstract

Acid α-glucosidase deficiency, that is, Pompe disease, is a glycogenosis for which enzyme replacement therapy (ERT) is available. It is not known whether patients diagnosed at an asymptomatic stage should be treated to prevent progression of the disease. We investigated 7 patients with asymptomatic Pompe disease identified from the French Pompe registry. The patients had a mean age of 45 (range 24-75) years, a median follow-up duration of 2 (range 1-22) years, and normal clinical examination, pulmonary function tests (PFTs), and echocardiography. All presented with at least 1 subclinical abnormality, including hyperCKemia, vacuolar myopathy, and muscle MRI abnormalities, suggesting that subclinical myopathy was present in all cases. Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT.

References

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Citations

Oct 17, 2015·Muscle & Nerve·Anna PichiecchioStefano Bastianello
Aug 30, 2018·Journal of Inherited Metabolic Disease·Claudio SempliciniUNKNOWN French Pompe Study Group
Mar 5, 2020·Journal of Cachexia, Sarcopenia and Muscle·Claudia Nuñez-PeraltaJordi Díaz-Manera
May 10, 2017·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A T van der PloegUNKNOWN European Pompe Consortium
Jul 20, 2018·Scientific Reports·Sebastian Figueroa-BonaparteJordi Díaz-Manera
Jun 10, 2020·Journal of Inherited Metabolic Disease·Claudio SempliciniUNKNOWN French Pompe Study Group
Nov 7, 2020·Muscle & Nerve·Jordi Díaz-ManeraVolker Straub
Nov 16, 2019·Neuromuscular Disorders : NMD·Jodi Warman ChardonUNKNOWN MYO-MRI Working Group

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