Blood test ID’s where antibodies bind to Pompe disease ERT

Locations where antibodies bind to enzyme replacement therapy (ERT) and potentially reduce its effectiveness in treating Pompe disease can now be identified using a drop of blood, a study reports. Knowing where anti-ERT antibodies bind may help find interventions to diminish the immune responses that generate them and also…

Motor neuron dysfunction may predict poor response to ERT

Some children with Pompe disease have dysfunctional motor neurons — the specialized nerve cells that control movement — in addition to muscle abnormalities, a new study highlights. Findings from the small study suggest that patients with motor neuron impairment may be less likely to see clinical benefits from…

Siblings have same gene mutations, but different symptoms: Report

Three siblings with Pompe disease caused by the same mutations were described in a recent report. Despite all having the same disease-causing mutations, the clinical presentation of the three children differed dramatically — one began showing symptoms in infancy, while another had not shown clinical abnormalities at the age…