Pompe disease: new study probes hidden nerve damage behind breathing problems
NCT ID NCT07664930
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aims to better understand how Pompe disease affects the nerves and muscles involved in breathing. Researchers will analyze nerve conduction and diaphragm activity in 20 adults with Pompe disease or unexplained respiratory failure. The goal is to identify patterns that could serve as early markers of respiratory involvement.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help identify early markers of respiratory problems in Pompe disease, potentially guiding earlier interventions.
- What could go wrong
- This is a small observational study (20 participants) that does not test any treatment. It may not lead to immediate clinical changes.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
-
About 20 people
The number the study aims to enrol. It can still change while the study runs.
- Started
-
Mar 2026
- Expected to finish
-
Feb 2029
An estimate. End dates often move.
- Lead sponsor
-
Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Approximately 20 adult patients with genetically confirmed Pompe disease are expected to be prospectively included. In addition, a retrospective review of approximately 150 previously performed phrenic nerve conduction studies and diaphragm electromyography examinations in patients with unexplained respiratory failure will be conducted. The prospective enrollment refers exclusively to newly evaluated Pompe disease patients, while the retrospective component is based on existing clinical records and neurophysiological data
- Ages
-
18 years and older
- Sex
-
Anyone
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for Pompe disease are added.
Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
-
The places running it
1 site. The list below names each one and where it is.
-
The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
-
A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
-
Translational Neurophysiology
RECRUITINGPavia, 27100, Italy
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can an oral pill ease breathing and muscle weakness in pompe disease?
- Can an oral pill boost muscle strength in pompe disease?
- Hope for pompe patients: could a switch in enzyme therapy slow decline?
- Heart condition costs under the microscope in massive hospital study
- Pompe disease study aims to unlock immune secrets for better treatment
- Pompe disease study peers into the brain for hidden clues