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

Journal of Neurology, Neurosurgery, and Psychiatry
O MusumeciItalian GSD II group

Abstract

A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool. 17 Italian neuromuscular centres were involved in the late-onset Pompe early diagnosis (LOPED) study. Inclusion criteria were: (1) age ≥5 years, (2) persistent hyperCKaemia and (3) muscle weakness at upper and/or lower limbs (limb-girdle muscle weakness, LGMW). Acid α-glucosidase (GAA) activity was measured separately on DBS by fluorometric as well as tandem mass spectrometry methods. A DBS retest was performed in patients resulted positive at first assay. For the final diagnosis, GAA deficiency was confirmed by a biochemical assay in skeletal muscle, whereas genotype was assessed by GAA molecular analysis. In a 14-month period, we studied 1051 cases: 30 positive samples (2.9%) were detected by first DBS screening, whereas, after retesting, 21 samples were still positive. Biochemical and molecular genetic studies finally confirmed LOPD diagnosis in 17 cases (1.6%). The median time from the onset of symptoms/signs to diagnosis was 5 years. Among those patients, 35% showed presymptomatic hyperCKaemia and 59% showed hyperCKaemia+LGMW, whe...Continue Reading

Associated Clinical Trials

Citations

Oct 17, 2015·Muscle & Nerve·Anna PichiecchioStefano Bastianello
Sep 14, 2019·Neurology. Genetics·Anna RubegniDenise Cassandrini
Jul 17, 2019·Journal of Clinical Pathology·Tim M ReynoldsUNKNOWN Collaborators and research nurses as listed below
Mar 18, 2019·Journal of Clinical Pathology·Marija MeznaricLea Leonardis
Aug 4, 2020·Aging·Simona TavernaGiovanni Duro

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