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Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease

NCT07664930 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2026-06-24

No results posted yet for this study

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 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.

Conditions

Sponsors & Collaborators

  • Fondazione Salvatore Maugeri

    collaborator OTHER

  • IRCCS National Neurological Institute "C. Mondino" Foundation

    lead OTHER

Principal Investigators

  • Giuseppe Cosentino, MD · Translational Neurophysiology

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-03-30
Primary Completion
2029-02-28
Completion
2029-02-28

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07664930 on ClinicalTrials.gov