Pompe DiseaseNCT07834320
Pompe Disease RWE Long-term Monitoring Program
An observational study of Pompe Disease, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pompe Disease
- How many people
- 40 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Oct 2023to 1 Oct 2036
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Pompe Patients receiving Avalglucosidase alfa
Who may be able to join
- -Confirmed GAA enzyme deficiency (any tissue source) and/or confirmed 2 pathogenic GAA gene variants Pompe patient
Who cannot join
- Having severe allergic reaction to avalglucosidase alfa.
- Patient/parent/legal guardian is not agreeing to provide signed informed consent, and the patient, if <18 years of age
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Taiwan1 site, 1 recruiting
- Recruiting
National Taiwan University Hospital
Taipei, Taiwan, 100
Yin-Hsiu Chien, MD, PhD, +886223123456 ext. 271937, chienyh@ntu.edu.tw
About this study
Official title: Long Term Follow-up for Patients With Pompe Disease Undergoing Compassionate Use and Transitioning to Medication Listed Under the National Health Insurance.
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT.
Read the detailed description
Clinical characteristics of Pompe patients receiving avalglucosidase alfa will be collected and analyzed. Adverse events occurring during avalglucosidase alfa treatment will be collected and described. Urinary Glc4/Hex4 is the primary endpoints for effectiveness analysis of avalglucosidase alfa. Other assessment items include creatine kinase, motor function (Quick Motor Function Test) and respiratory function (forced vital capacity). The evolution of those assessment items after avalglucosidase alfa treatment will be descriptively analyzed and compared to baseline assessments (i.e., the time before initiating avalglucosidase alfa and/or one-year preceding avalglucosidase alfa initiation) at the individual patient level depending on prior duration of ERT at time of avalglucosidase alfa switch.
- Conditions
- Pompe Disease
- Keywords
- Pompe Disease
- Medical subject headings
- Glycogen Storage Disease Type II
What is being measured
The primary outcome is the main question the study is designed to answer.
Urinary Glc4/Hex4
the primary endpoints for effectiveness analysis of avalglucosidase alfa. Urinary Glc4/Hex4 is usually elevated in Pompe patients and are sensitive though nonspecific biomarkers for diagnosis and monitoring of IOPD or LOPD
Measured: 3years
Secondary outcomes (3)
Creatine kinase
Serum CK is usually elevated in Pompe patients and are sensitive though nonspecific biomarkers for diagnosis and monitoring of IOPD or LOPD (Kishnani et al., 2006; Li et al., 2021; Young et al., 2009).
Measured: 3years
motor function (Quick Motor Function Test)
QMFT score is strongly correlated with proximal muscle strength, and significantly differentiated between patients with different levels of mobility (van Capelle et al., 2012), muscle function will be assessed by QMFT annually.
Measured: 3 years
respiratory function (forced vital capacity).
Pulmonary function will be assessed by forced vital capacity. For infants, pulmonary function tests are difficult to administer and therefore data might be limited.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Sep 2026
- Study start1 Oct 2023
- Primary completion1 Oct 2036 (estimated)
- Study completion1 Oct 2036 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, National Taiwan University Clinical Trial Center, National Taiwan University Hospital
- Investigators
- Yin-Hsiu Chien, MD, PhD, Principal investigator, National Taiwan University Hospital Taipei, Taiwan, 100
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07834320
- Sponsor's protocol ID
- SGZ202213798
- Status last verified
- Jan 2026
- First submitted
- 19 Apr 2024
- Last updated
- 22 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Long Term Follow-up for Patients With Pompe Disease Undergoing Compassionate Use and Transitioning to Medication Listed Under the National Health Insurance.
- ClinicalTrials.gov ID
- NCT07834320
- Acronym / sponsor ID
- SGZ202213798
- Conditions
- Pompe Disease
- Keywords
- Pompe Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 1 Oct 2023 (actual)
- Primary completion
- 1 Oct 2036 (estimated)
- Study completion
- 1 Oct 2036 (estimated)
- First posted
- 22 Sep 2026 (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.
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT.
Detailed description
Clinical characteristics of Pompe patients receiving avalglucosidase alfa will be collected and analyzed. Adverse events occurring during avalglucosidase alfa treatment will be collected and described. Urinary Glc4/Hex4 is the primary endpoints for effectiveness analysis of avalglucosidase alfa. Other assessment items include creatine kinase, motor function (Quick Motor Function Test) and respiratory function (forced vital capacity). The evolution of those assessment items after avalglucosidase alfa treatment will be descriptively analyzed and compared to baseline assessments (i.e., the time before initiating avalglucosidase alfa and/or one-year preceding avalglucosidase alfa initiation) at the individual patient level depending on prior duration of ERT at time of avalglucosidase alfa switch.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pompe Patients receiving Avalglucosidase alfa
Key inclusion criteria (1 listed)
- -Confirmed GAA enzyme deficiency (any tissue source) and/or confirmed 2 pathogenic GAA gene variants Pompe patient
Key exclusion criteria (2 listed)
- Having severe allergic reaction to avalglucosidase alfa.
- Patient/parent/legal guardian is not agreeing to provide signed informed consent, and the patient, if <18 years of age
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Urinary Glc4/Hex4
Time frame: 3years
the primary endpoints for effectiveness analysis of avalglucosidase alfa. Urinary Glc4/Hex4 is usually elevated in Pompe patients and are sensitive though nonspecific biomarkers for diagnosis and monitoring of IOPD or LOPD
3 secondary outcomes
Creatine kinase
Time frame: 3years
motor function (Quick Motor Function Test)
Time frame: 3 years
respiratory function (forced vital capacity).
Time frame: 3 years
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 22 Sep 2026.
Related trials for Pompe Disease
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
RecruitingPhase 1/2
A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
Pompe Disease (Late-onset), Pompe Disease Late-Onset
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.
Yin-Hsiu Chien, MD, PhD principal investigator
National Taiwan University Hospital Taipei, Taiwan, 100
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, run by National Taiwan University Hospital at 1 site in Taiwan.
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 1 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 22 Sep 2026. 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 Taiwan. 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?
Contact Yin-Hsiu Chien, MD, PhD (+886223123456 ext. 271937, chienyh@ntu.edu.tw), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Urinary Glc4/Hex4 (time frame: 3years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 22 Sep 2026; AzTrials last refreshed its copy on 6 Nov 2026.