Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease

Sponsor
IRCCS National Neurological Institute "C. Mondino" Foundation
Study ID
NCT07664930
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Study Details

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 respiratory involvement, sometimes occurring even in the absence of clinically significant limb muscle weakness. These findings suggest that respiratory motor unit dysfunction may represent an important component of the disease phenotype. This observational study aims to systematically characterize phrenic nerve conduction parameters and diaphragm electromyographic findings in adult patients with genetically confirmed Pompe disease and in patients with unexplained respiratory failure. Retrospective and prospective clinical, neurophysiological, and respiratory data collected during routine clinical care will be analyzed to explore whether phrenic nerve and diaphragm abnormalities may serve as markers of respiratory motor unit involvement in Pompe disease.

Key Dates

Start date
Mar 30, 2026
Status verified
Apr 2026
Primary completion
Feb 28, 2029
Completion
Feb 28, 2029

Study Design

Enrollment
20 participants (estimated)

Primary Outcome Measure

Motor latency (ms) [ Time Frame: Baseline (at first available assessment, retrospective or prospective) ]

Central Contacts

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