Given the

data obtained in different Mdm2 inhibitor cohorts of patients, treated with ERT, there is a clear evidence that alglucosidase improves the walking distance and stabilizes the pulmonary function. A precise monitoring should help to make a decision for initiating or even interrupt ERT Patients should be followed in specialized neuromuscular or metabolic Departments, in connection with a pulmonology unit. Follow-up visits should be organized every 6 months or once a year with clinical evaluations performed by expert physicians and trained physiotherapists; those results should be collected on dedicated data base/registries. To date, there is a need of specific Inhibitors,research,lifescience,medical outcome measures to monitor patients before treatment and during the follow up. Across Inhibitors,research,lifescience,medical various European countries and US, clinical assessment has been differentially monitored. In fact 6 MWT, MMT, MFM scale, timed tests (i.e. GSGC), WGMS, muscle MRI, SF- 36, have been applied every 3-6 months/1 year to patients. Since 2006, AIFA (Agenzia Italiana del Farmaco) has approved alglucosidase alfa (Myozyme) for the

Inhibitors,research,lifescience,medical treatment of Pompe disease patients in Italy, either for infantile or late-onset patients. The authorisation to treat patients by ERT has to be given by Centres specialized in rare diseases. Every Centre must assess the diagnosis Inhibitors,research,lifescience,medical of Pompe disease with absolute certainty before starting treatment. In 2008, a group of Italian Pompe disease experts reviewed, from a multidisciplinary point of view, the current practices in diagnosis, management and treatment of Pompe disease (2). The main criteria for starting ERT included: 1) confirmed diagnosis; 2) symptoms and clinical signs of muscle weakness and or respiratory insufficiency; 3) in cases of asymptomatic hyperckemia, a 6-months follow up was suggested in an attempt to monitor clinically relevant changes Inhibitors,research,lifescience,medical leading to treatment. The standard protocol mainly includes evaluation of muscle strength, respiratory assessment and skeletal muscle MRI that has been applied to 74 patients treated with

ERT coming from 18 different Italian Centres, recently described by Angelini et al. (3). Nowadays, general recommendations includes monitoring Idoxuridine of limb muscles and respiratory functions every 6 months using timed tests and functional scales. Muscle MRI may constitute an important tool to check the progression of intramuscular fat replacement in the patients (4). Respiratory function should include at least assessment of upright and supine FVC. Other important aspects of the disease to be considered are the cardiac function (ECG once a year) as well as antiRhGAA antibodies (every 3 months) levels, Glc4 (the only available biomarker of muscle glycogenosis type II) and brain MRI if there are symptoms suggestive of CNS involvement.