Clinical Trial: Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease

U.S., June 25 -- ClinicalTrials.gov registry received information related to the study (NCT07664930) titled 'Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease' on April 20.

Brief Summary: Pompe disease is traditionally considered a lysosomal myopathy. However, increasing experimental and clinical evidence suggests involvement of the entire motor unit, including motor neurons, peripheral nerves, neuromuscular junctions, and skeletal muscle. Respiratory impairment is a major cause of morbidity and mortality, and diaphragm dysfunction is frequently observed.

Clinical observations at IRCCS Fondazione Mondino have highlighted neurophysiological abnormalities of the phrenic nerve and diaphragm in patients with Pompe disease and res...