208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

“…To allow such evaluation to take place, start criteria should include the commitment of the patient and physician to regular monitoring. The patient should be evaluated using at least the minimal set of clinical assessments mentioned above .…”

“…A positive dried‐blood‐spot screening test should always be followed by one of these tests for confirmation of the diagnosis. The patient should be symptomatic, i.e. should have skeletal muscle weakness or respiratory muscle involvement as observed using clinical assessments (see ). The patient should commit to regular treatment (every other week) and regular monitoring (at least once per year) to evaluate his/her response to treatment. The clinician should commit to regular treatment and monitoring. The patient should have residual skeletal and respiratory muscle function, which is considered functionally relevant and clinically important for the patient to maintain or improve. The patient should not have another life‐threatening illness that is in an advanced stage, where treatment to sustain life is inappropriate.…”

“…Stopping treatment should be considered for any one of the following reasons: The patient suffers from severe infusion‐associated reactions that cannot be managed properly. High antibody titers are detected that significantly counteract the effect of ERT. The patient wishes to stop ERT. The patient does not comply with regular infusions or yearly clinical assessments. The patient has another life‐threatening illness that is in an advanced stage, where treatment to sustain life is inappropriate. There is no indication that skeletal muscle function and/or respiratory function have stabilized or improved in the first 2 years after start of treatment, as assessed using clinical assessments (see ). N.B.…”

Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment

“…Recently, some authors have focused the attention to define minimal data set to be applied in the management of Pompe patients, expressing the need to identify common outcome measures [24]. It is worthwhile to outline that this protocol is quite fast and simple and could be usually added to skeletal muscle MRI examination, being also potentially useful as a reliable outcome measure for future clinical trials.…”

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

“…Patients with symptom onset at childhood or adulthood have a more slowly progressive disease, leading to mobility problems and respiratory difficulties, but generally without hypertrophic cardiomyopathy. Most of these patients will become ventilator and wheelchair dependent at some point in time (Gungor & Reuser, ; Reuser, Hirschhorn, & Kroos, ; Schoser et al, ).…”