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• W2158197879 abstract "Objective: a multicenter observational study, aimed to perform an early diagnosis of Late-Onset Pompe Disease (LOPD) and to assess prevalence in a large high-risk population.Background: Pompe disease is a lysosomal disorder caused by GAA deficiency. LOPD is characterized by progressive muscle weakness and/or respiratory failure but, sometimes, only asymptomatic hyperCKemia. Being a muscle degenerative disorder, it has been suggested that an early diagnosis could be more useful for a timely ERT start and to maximize its efficacy. Design/Methods 17 Italian Neuromuscular Centers were involved in the LOPED (Late-Onset Pompe Early Diagnosis) study. Inclusion criteria were: a) age 蠅 5 years, b) persistent hyperCKemia, c) muscle weakness at upper and/or lower limbs (LGMW). In all patients, GAA activity was initially measured on Dried Blood Spot (DBS) by fluorometric and tandem mass spectrometry methods. DBS re-test was then performed in the patients resulted positive on first assay. GAA deficiency had to be confirmed by a second biochemical assay on lymphocytes, fibroblasts or muscle tissue, and by GAA gene molecular analysis. Results: In a 14-month-period, we studied 1051 cases (Males 60%, Females 40%), consecutively admitted to the 17 Neuromuscular Centers: 52% of cases showed asymptomatic hyperCKemia, 40% hyperCKemia and LGMW, whereas 8% only LGMW. 31 positive samples (2,9%) were detected by first DBS screening. After retest, GAA deficiency was identified only in 19 cases; biochemical/molecular studies confirmed LOPD diagnosis in 17 cases. In these patients, the median time from the onset of symptoms/signs to the diagnosis was 7,7 years. Among those patients, 35% showed an asymptomatic hyperCKemia, 59% hyperCKemia and LGMW whereas 6% manifested only LGMW. Conclusions: LOPED study revealed 17 LOPD patients in the considered high-risk population (1,6%). Median time at diagnosis was 7,7 yrs; it is noteworthy that 35% of patients with asymptomatic hyperCKemia were early identified. This study suggests that GAA activity should be largely checked by DBS in patients with hyperCKemia and/or LGMW as a first step investigation. Disclosure: Dr. Musumeci has nothing to disclose. Dr. la Marca has nothing to disclose. Dr. Pagliardini has nothing to disclose. Dr. Spada has nothing to disclose. Dr. Danesino has received personal compensation for activities with Genzyme Corp. Dr. Comi has nothing to disclose. Dr. Pegoraro has received personal compensation for activities with BioMarin Pharmaceutical Inc., and MEDA Pharmaceuticals Inc. Dr. Antonini has nothing to disclose. Dr. Marrosu has nothing to disclose. Dr. Liguori has nothing to disclose. Dr. Morandi has nothing to disclose. Dr. Moggio has nothing to disclose. Dr. Massa has nothing to disclose. Dr. Ravaglia has nothing to disclose. Dr. Di Muzio has nothing to disclose. Dr. Angelini has received personal compensation for activities with Genzyme Corporation as an advisory board member. Dr. Filosto has nothing to disclose. Dr. Tonin has nothing to disclose. Dr. Di Iorio has nothing to disclose. Dr. Servidei has nothing to disclose. Dr. Siciliano has nothing to disclose. Dr. Mongini has received personal compensation for activities with Telethon Italy, and Genzyme Corporation. Dr. Mongini has received research support from AIFA (Italian Government; Drug Agency) and Telethon Italy. Dr. Toscano has nothing to disclose." @default.
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• W2158197879 date "2014-04-08" @default.
• W2158197879 modified "2023-09-28" @default.
• W2158197879 title "Looking for an Early Diagnosis in a Late Onset Pompe Disease High Risk Population: A LOPED Study (P3.015)" @default.
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