Phrenic nerve and diaphragm testing in Pompe disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational, non-interventional study combining retrospective and prospective data. It systematically characterizes phrenic nerve conduction and diaphragm electromyography in adults with genetically confirmed Pompe disease, using routine neurophysiological and respiratory assessments. The retrospective arm reviews historical phrenic and diaphragm tests, while the prospective arm collects standardized data during routine follow-up. Assessments include bilateral phrenic nerve studies, peripheral nerve and limb muscle evaluation, diaphragm needle EMG when clinically indicated, and respiratory measures such as spirometry, MIP/MEP, and supine testing. No experimental treatments or study-specific interventions are introduced; findings will help clarify respiratory motor-unit involvement in Pompe disease.

Why it matters

Who can join: the full rules

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.

Where it's running

• Translational Neurophysiology
  Pavia, Italy Recruiting

Study contacts

• Principal investigator: Giuseppe Cosentino, MD — Translational Neurophysiology
• Study coordinator: Giuseppe Cosentino, MD
• Email: giuseppe.cosentino@mondino.it
• Phone: 0382380249

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.