LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

O MusumeciG la MarcaM SpadaS MondelloC DanesinoG P ComiE PegoraroG AntoniniG MarrosuR LiguoriL MorandiM MoggioRoberto MassaS RavagliaA Di MuzioM FilostoP ToninG Di IorioS ServideiG SicilianoC AngeliniT MonginiA Toscanonull null

Published in: Journal of neurology, neurosurgery, and psychiatry (2015)

LOPED study suggests that GAA activity should be accurately screened by DBS in all patients referring for isolated hyperCKaemia and/or LGMW. A timely diagnosis was performed in five patients with presymptomatic hyperCKaemia, but two had already manifested with relevant changes on muscle morphology and MRI. Consequently, enzyme replacement therapy was started in 14/17 patients, including the 2 patients still clinically presymptomatic but with a laboratory evidence of disease progression.

Keyphrases

late onset
end stage renal disease
ejection fraction
newly diagnosed
replacement therapy
peritoneal dialysis
magnetic resonance imaging
early onset
computed tomography
skeletal muscle
patient reported outcomes