ClinicalTrials.gov record NCT07664930

Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Electrophysiological Study of the Phrenic Nerve and Diaphragm in Pompe Disease: Retrospective and Prospective Cohort Analysis

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationItaly
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a non‑interventional observational study that both reviews past records and follows patients going forward. It focuses on phrenic nerve conduction and diaphragm electromyography in adults with genetically confirmed Pompe disease and on prior neurophysiological studies from people with unexplained respiratory failure. All data come from routine clinical assessments; no study-specific treatments or extra diagnostic procedures are introduced.

What it is studying. Whether and how phrenic nerve conduction measurements and diaphragm electromyography describe respiratory motor unit involvement in Pompe disease and whether these tests contribute diagnostically in unexplained respiratory failure.

What the researchers hope to learn. To better characterize respiratory motor unit involvement in Pompe disease and to evaluate whether phrenic nerve and diaphragm electrophysiology have diagnostic value in patients with unexplained respiratory failure.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

This is a non-interventional observational study with a mixed retrospective and prospective cohort design. No experimental treatments, additional diagnostic procedures, or study-specific interventions are introduced. All data derive exclusively from routine clinical evaluations performed as part of standard patient care. Two main populations are included: 1) Adult patients with genetically confirmed Pompe disease undergoing routine neurophysiological and respiratory assessments; 2) Patients with restrictive respiratory failure or unexplained hypoventilation who previously underwent phrenic nerve conduction studies and/or diaphragm electromyography as part of clinical workup, identified retrospectively. The retrospective component consists of systematic review of phrenic nerve conduction studies and diaphragm electromyography performed over previous years in patients with suspected neuromuscular respiratory failure. The prospective component involves standardized collection of neurophysiological and respiratory data obtained during routine follow-up of patients with confirmed Pompe disease. Neurophysiological assessments include bilateral phrenic nerve motor conduction studies and evaluation of peripheral nerves and limb muscles. Diaphragm needle electromyography is performed only when clinically indicated. Respiratory evaluations include spirometry with forced vital capacity in seated and supine positions, maximal inspiratory and expiratory pressures (MIP/MEP), and, when clinically required, overnight ventilation studies. The primary outcome is the characterization of phrenic nerve conduction parameters, including motor latency, compound muscle action potential amplitude, and presence or absence of diaphragmatic responses. Secondary outcomes include diaphragm electromyographic patterns, comparison between phrenic nerve and other peripheral nerves, and correlations between neurophysiological parameters and respiratory function. Data are collected retrospectively from medical records and prospectively during routine clinical visits, pseudonymized, and analyzed descriptively and exploratorily. The study aims to improve characterization of respiratory motor unit involvement in Pompe disease and to evaluate the potential diagnostic contribution of phrenic nerve and diaphragm electrophysiology in patients with unexplained respiratory failure.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is an observational study using only routine clinical care data; no experimental treatments or study-specific procedures are introduced. Prospective participants provide written consent and undergo standard neurophysiological tests (including bilateral phrenic nerve conduction studies and peripheral nerve/limb testing), respiratory tests (spirometry seated and supine; maximal inspiratory and expiratory pressures), and, if clinically required, diaphragm needle electromyography (a needle test) and overnight ventilation studies. Retrospective participants have past phrenic nerve and diaphragm electrophysiology results and clinical records reviewed. All collected data are pseudonymized and analyzed.

How the study is structured. Mixed retrospective and prospective, non‑interventional observational study. The retrospective part systematically reviews previously performed phrenic nerve conduction studies and diaphragm EMG in patients with unexplained respiratory failure. The prospective part collects standardized neurophysiological and respiratory data during routine follow‑up of adults with genetically confirmed Pompe disease. Diaphragm needle EMG is only performed when clinically indicated; all other data come from standard care assessments.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Pompe disease

Clinical trials32 trials listed for Pompe diseaseEvery trial the registry lists for Pompe disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Pompe disease researchLatest monthly update: September 2026. Includes: Antibody effects. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 30, 2026
Primary completion
Feb 28, 2029 (estimated)
Study completion
Feb 28, 2029 (estimated)
Target enrollment
20 participants (estimated)
Last updated on registry
Jun 24, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
IRCCS National Neurological Institute "C. Mondino" Foundation
Collaborators
  • Fondazione Salvatore Maugeri

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

prospective cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.
Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
contraindications
A reason a particular test or treatment should not be used for a person, for example a metal implant that rules out an MRI scan.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
forced vital capacity
A breathing test that measures the total amount of air a person can blow out after a full breath in. It is often given as a percentage of what is expected for a person's age and size.
primary outcome
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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