Observational Study to Evaluate Phrenic Nerve and Diaphragm Function in Adults with Pompe Disease and Unexplained Respiratory Failure

What this Trial Is About

Pompe disease is a condition affecting muscles and the nervous system, especially involving the motor units like motor neurons, peripheral nerves, neuromuscular junctions, and skeletal muscle. Respiratory problems, particularly diaphragm dysfunction, are a major concern in this disease. This observational study aims to explore abnormalities in the phrenic nerve and diaphragm in adults with genetically confirmed Pompe disease and in patients with unexplained respiratory failure, to better understand respiratory motor unit involvement in Pompe disease. This research involves no experimental treatments or extra procedures beyond standard clinical care. It includes two groups adults with confirmed Pompe disease undergoing routine neurophysiological and respiratory tests, and patients with respiratory failure who had previous phrenic nerve and diaphragm studies as part of their clinical evaluation. Data are collected both retrospectively from past records and prospectively during routine clinical visits. Neurophysiological tests include phrenic nerve conduction studies and diaphragm electromyography when clinically needed. Respiratory assessments include spirometry, maximal inspiratory and expiratory pressures, and overnight ventilation studies if required. Participants contribute data through regular clinical evaluations. Researchers analyze nerve conduction parameters such as motor latency and muscle action potential, as well as diaphragm responses. They also examine diaphragm electromyographic patterns and compare nerve function with respiratory measures. Data are collected in a pseudonymized way from medical records and routine visits. The goal is to improve understanding of respiratory muscle nerve involvement in Pompe disease and evaluate the use of these tests as diagnostic markers. The study is expected to continue until February 2029.

Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease