NCT07664930 Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
| NCT ID | NCT07664930 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS National Neurological Institute "C. Mondino" Foundation |
| Condition | Pompe Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 20 participants |
| Start Date | 2026-03-30 |
| Primary Completion | 2029-02-28 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 20 participants in total. It began in 2026-03-30 with a primary completion date of 2029-02-28.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 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.
Eligibility Criteria
Inclusion Criteria: 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. Exclusion Criteria: \- Age \< 18 years. For the prospective cohort: * Conditions preventing completion of neurophysiological assessments (e.g., inability to maintain required positioning or relevant clinical contraindications). * Known primary phrenic nerve injury (e.g., postsurgical phrenic palsy or documented traumatic phrenic neuropathy). * Presence of other neuromuscular disorders potentially confounding data interpretation. * Refusal or inability to provide informed consent. For the retrospective cohort: * Incomplete or technically non-interpretable neurophysiological examinations. * Previously established respiratory or neuromuscular diagnoses fully explaining respiratory impairment. * Cases requiring additional clinical information for study purposes when patient consent for contact or data completion cannot be obtained.
Contact & Investigator
Giuseppe Cosentino, MD
PRINCIPAL INVESTIGATOR
Translational Neurophysiology
Frequently Asked Questions
Who can join the NCT07664930 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Pompe Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07664930 currently recruiting?
Yes, NCT07664930 is actively recruiting participants. Contact the research team at giuseppe.cosentino@mondino.it for enrollment information.
Where is the NCT07664930 trial being conducted?
This trial is being conducted at Pavia, Italy.
Who is sponsoring the NCT07664930 clinical trial?
NCT07664930 is sponsored by IRCCS National Neurological Institute "C. Mondino" Foundation. The principal investigator is Giuseppe Cosentino, MD at Translational Neurophysiology. The trial plans to enroll 20 participants.