NCT07664930Recruiting
Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
Electrophysiological Study of the Phrenic Nerve and Diaphragm in Pompe Disease: Retrospective and Prospective Cohort Analysis
Source: ClinicalTrials.gov · Last updated 24 Jun 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 20 (estimated)
- First submitted
- 20 Apr 2026
- Start date
- 30 Mar 2026
- Primary completion date
- 28 Feb 2029
- Lead sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
- Diseases
- Pompe disease
- NCT number
- NCT07664930
What you commit to
- Study type: Observational
- Planned participants: 20
- From 30 Mar 2026 to the primary completion date, 28 Feb 2029
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Previously established respiratory or neuromuscular diagnoses fully explaining respiratory impairment.
Other illness
- Conditions preventing completion of neurophysiological assessments (e.g., inability to maintain required positioning or relevant clinical contraindications).
- Presence of other neuromuscular disorders potentially confounding data interpretation.
Age
- \- Age \< 18 years.
Other
- For the prospective cohort:
- Known primary phrenic nerve injury (e.g., postsurgical phrenic palsy or documented traumatic phrenic neuropathy).
- Refusal or inability to provide informed consent.
- For the retrospective cohort:
- Incomplete or technically non-interpretable neurophysiological examinations.
- Cases requiring additional clinical information for study purposes when patient consent for contact or data completion cannot be obtained.
Who the study is looking for
- Age ≥ 18 years.
- For the prospective cohort:
- Genetically confirmed diagnosis of Pompe disease.
- Ability to undergo routine neurophysiological and respiratory assessments.
- Written informed consent provided.
- For the retrospective cohort:
- History of restrictive respiratory failure or unexplained hypoventilation.
- Availability of previous phrenic nerve conduction studies and/or diaphragm electromyography performed as part of routine clinical evaluation.
Age in the registry: 18 years to - · Sex: All
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Translational Neurophysiology Coordinator of this site? Confirm its status | Pavia | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.