Pompe DiseasePOMPENCT05943678
Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study.
An observational study of Pompe Disease and McArdle Disease, run by Medical University of Vienna at 1 site in Austria.
Trial summary
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Pompe Disease, McArdle Disease
- What is being tested?
- Siemens Magnetom 7T Plus
- Type of treatment
- Medical device
- How many people
- 30 participants
- Where
- 1 siteAustria
- Study dates
- 15 Aug 2023to 15 Oct 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- Adult, Older adult
Study population: Adult patients diagnosed with Pompe or McArdle Disease based on enzyme activity and/or genetic testing Healthy individuals will serve as controls
Who may be able to join
- Patients with PoD and McArdle disease:
- age between 18-70
- Confirmed diagnosis: enzyme activity and/or genetic testing
- body weight > 40kg at screening
- 6-minute walking distance > 75m at screening (only PoD patients)
- Sitting FCV ≥ 30% predicted (only PoD patients)
Show all 9Show fewer
- "Informed Consent" issued orally and in writing
- Healthy volunteers (controls):
- age between 18-70
Who cannot join
- Patients with PoD and McArdle disease:
- pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
- Involvement of the respiratory musculature
- claustrophobia
- active participation in another clinical trial
- metal devices or other magnetic material in or on the subjects body which will be hazardous for NMR investigation [heart pacemaker, coronary stents and heart valves (in case these devices are not compatible with a 7T MRI), brain (aneurysm) clip, nerve stimulators, electrodes, ear implants, penile implants, colored contact lenses, patch to deliver medications through the skin, coiled spring intrauterine device, vascular filter for blood clots, orthodontic braces, shunt-spinal or ventricular, any metal implants (rods, joints, plates, pins, screws, nails, or clips), embolization coil, or any metal fragments or shrapnel in the body.
Show all 14Show fewer
- Healthy volunteers (controls):
- any known endocrine, metabolic or neurological disorder
- special diets especially ketogenic or atkins diet
- creatine supplementation
- pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
- claustrophobia
- active participation in another clinical trial
- metal devices or other magnetic material in or on the subjects body which will be hazardous for NMR investigation [heart pacemaker, coronary stents and heart valves (in case these devices are not compatible with a 7T MRI), brain (aneurysm) clip, nerve stimulators, electrodes, ear implants, penile implants, colored contact lenses, patch to deliver medications through the skin, coiled spring intrauterine device, vascular filter for blood clots, orthodontic braces, shunt-spinal or ventricular, any metal implants (rods, joints, plates, pins, screws, nails, or clips), embolization coil, or any metal fragments or shrapnel in the body.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients. However, in a single study, increases in glycogen intermediates were observed using the even more sensitive 31P-MRS technique in a mouse model of PoD and in glycogen storage disease III in humans. In fact, glycolytic intermediates such as phosphomonoesters (PME), measured by phosphorus-31P-MRS in PoD mouse models, were superior to 13C-MRS in monitoring disease progression and quantifying glycogen, indicating a significant clinical potential of 31P-MRS in humans. It has been shown that 31P-MRS can reliably quantify age- and weight-related differences as well as changes in thyroid function in human muscle metabolism. This study conducted by our institute demonstrates that the technique possesses the necessary sensitivity to measure these subtle muscular metabolic changes. However, there are currently no human 31P-MRS muscle data available for PoD. Therefore, we propose a proof-of-principle study to address this knowledge gap and contribute to establishing a new sensitive muscular biomarker that quantifies the primary disease mechanism, namely glycogen formation, for future longitudinal studies on PoD.
- Conditions
- Pompe Disease, McArdle Disease
- Being tested
- Siemens Magnetom 7T Plus
- Medical subject headings
- Glycogen Storage Disease Type II, Glycogen Storage Disease Type V
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Siemens Magnetom 7T PlusDevice
Magnetic Resonance Spectroscopy
| Study group | Role | What they receive |
|---|---|---|
| Healthy controls | negative controls Receives: Device: Siemens Magnetom 7T Plus | |
| Pompe Disease patients | Not described Receives: Device: Siemens Magnetom 7T Plus | |
| McArdle Disease patients | positiv controls Receives: Device: Siemens Magnetom 7T Plus |
What is being measured
The primary outcome is the main question the study is designed to answer.
muscle glycogen concentration
Measured: 12 months
Secondary outcomes (1)
muscle phospho-mono-ester concentration (PME)
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2023
- Study start15 Aug 2023
- Primary completion15 Aug 2028 (estimated)
- Study completion15 Oct 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by Medical University of ViennaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Medical University of Vienna
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Thomas Scherer, Medical University of Vienna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05943678
- Sponsor's protocol ID
- 1868/2022
- Acronym
- POMPE
- Status last verified
- Aug 2025
- First submitted
- 5 Jul 2023
- Last updated
- 26 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Wary C, Laforet P, Eymard B, Fardeau M, Leroy-Willig A, Bassez G, Leroy JP, Caillaud C, Poenaru L, Carlier PG. Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency. Neuromuscul Disord. 2003 Sep;13(7-8):545-53. doi: 10.1016/s0960-8966(03)00069-5.
PubMed 12921791Taylor KM, Meyers E, Phipps M, Kishnani PS, Cheng SH, Scheule RK, Moreland RJ. Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. PLoS One. 2013;8(2):e56181. doi: 10.1371/journal.pone.0056181. Epub 2013 Feb 14.
PubMed 23457523Baligand C, Todd AG, Lee-McMullen B, Vohra RS, Byrne BJ, Falk DJ, Walter GA. 13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease. Mol Ther Methods Clin Dev. 2017 Sep 8;7:42-49. doi: 10.1016/j.omtm.2017.09.002. eCollection 2017 Dec 15.
PubMed 29018835Beiglbock H, Wolf P, Pfleger L, Caliskan B, Fellinger P, Zettinig G, Anderwald CH, Kenner L, Trattnig S, Kautzky-Willer A, Krssak M, Krebs M. Effects of Thyroid Function on Phosphodiester Concentrations in Skeletal Muscle and Liver: An In Vivo NMRS Study. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa663. doi: 10.1210/clinem/dgaa663.
PubMed 32944774
Study at a glance
From the registry record, last updated by the sponsor on 26 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive
- ClinicalTrials.gov ID
- NCT05943678
- Acronym / sponsor ID
- POMPE / 1868/2022
- Conditions
- Pompe Disease, McArdle Disease
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Medical University of ViennaUniversity, hospital or other
- Study start
- 15 Aug 2023 (actual)
- Primary completion
- 15 Aug 2028 (estimated)
- Study completion
- 15 Oct 2028 (estimated)
- First posted
- 13 Jul 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Previous studies have indicated that 13C-MRS in the ultra-high 7T magnetic resonance (MR) field is a potential non-invasive measurement method for assessing changes in muscle glycogen levels in PoD patients. However, in a single study, increases in glycogen intermediates were observed using the even more sensitive 31P-MRS technique in a mouse model of PoD and in glycogen storage disease III in humans. In fact, glycolytic intermediates such as phosphomonoesters (PME), measured by phosphorus-31P-MRS in PoD mouse models, were superior to 13C-MRS in monitoring disease progression and quantifying glycogen, indicating a significant clinical potential of 31P-MRS in humans. It has been shown that 31P-MRS can reliably quantify age- and weight-related differences as well as changes in thyroid function in human muscle metabolism. This study conducted by our institute demonstrates that the technique possesses the necessary sensitivity to measure these subtle muscular metabolic changes. However, there are currently no human 31P-MRS muscle data available for PoD. Therefore, we propose a proof-of-principle study to address this knowledge gap and contribute to establishing a new sensitive muscular biomarker that quantifies the primary disease mechanism, namely glycogen formation, for future longitudinal studies on PoD.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Healthy controls | – | Device: Siemens Magnetom 7T Plusnegative controls |
| Pompe Disease patients | – | Device: Siemens Magnetom 7T Plus |
| McArdle Disease patients | – | Device: Siemens Magnetom 7T Pluspositiv controls |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Adult patients diagnosed with Pompe or McArdle Disease based on enzyme activity and/or genetic testing Healthy individuals will serve as controls
Key inclusion criteria (9 listed)
- age between 18-70
- Confirmed diagnosis: enzyme activity and/or genetic testing
- body weight > 40kg at screening
- 6-minute walking distance > 75m at screening (only PoD patients)
- Sitting FCV ≥ 30% predicted (only PoD patients)
Key exclusion criteria (14 listed)
- pregnancy (will be assessed prior to MRS measurements using a rapid pregnancy test)
- Involvement of the respiratory musculature
- claustrophobia
- active participation in another clinical trial
- metal devices or other magnetic material in or on the subjects body which will be hazardous for NMR investigation [heart pacemaker, coronary stents and heart valves (in case these devices are not compatible with a 7T MRI), brain (aneurysm) clip, nerve stimulators, electrodes, ear implants, penile implants, colored contact lenses, patch to deliver medications through the skin, coiled spring intrauterine device, vascular filter for blood clots, orthodontic braces, shunt-spinal or ventricular, any metal implants (rods, joints, plates, pins, screws, nails, or clips), embolization coil, or any metal fragments or shrapnel in the body.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Siemens Magnetom 7T PlusMagnetic Resonance Spectroscopy | Device | Healthy controls, McArdle Disease patients, Pompe Disease patients |
Primary outcome
muscle glycogen concentration
Time frame: 12 months
1 secondary outcome
muscle phospho-mono-ester concentration (PME)
Time frame: 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Aug 2025.
- Background: PubMed 12921791Wary C, Laforet P, Eymard B, Fardeau M, Leroy-Willig A, Bassez G, Leroy JP, Caillaud C, Poenaru L, Carlier PG. Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency. Neuromuscul Disord. 2003 Sep;13(7-8):545-53. doi: 10.1016/s0960-8966(03)00069-5.
- Background: PubMed 23457523Taylor KM, Meyers E, Phipps M, Kishnani PS, Cheng SH, Scheule RK, Moreland RJ. Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. PLoS One. 2013;8(2):e56181. doi: 10.1371/journal.pone.0056181. Epub 2013 Feb 14.
- Background: PubMed 29018835Baligand C, Todd AG, Lee-McMullen B, Vohra RS, Byrne BJ, Falk DJ, Walter GA. 13C/31P MRS Metabolic Biomarkers of Disease Progression and Response to AAV Delivery of hGAA in a Mouse Model of Pompe Disease. Mol Ther Methods Clin Dev. 2017 Sep 8;7:42-49. doi: 10.1016/j.omtm.2017.09.002. eCollection 2017 Dec 15.
- Background: PubMed 32944774Beiglbock H, Wolf P, Pfleger L, Caliskan B, Fellinger P, Zettinig G, Anderwald CH, Kenner L, Trattnig S, Kautzky-Willer A, Krssak M, Krebs M. Effects of Thyroid Function on Phosphodiester Concentrations in Skeletal Muscle and Liver: An In Vivo NMRS Study. J Clin Endocrinol Metab. 2020 Dec 1;105(12):dgaa663. doi: 10.1210/clinem/dgaa663.
- Individual participant dataSharing planned: No
Related trials for Pompe Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
Not yet recruitingPhase 2
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
Pompe Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease and McArdle Disease, run by Medical University of Vienna at 1 site in Austria.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 26 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Austria. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
muscle glycogen concentration (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05943678, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Aug 2025.