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NCT Number: NCT07834320

Pompe Disease RWE Long-term Monitoring Program

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.

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Key information

Conditions

Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

National Taiwan University Hospital

Taipei, Taiwan, 100

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

-Confirmed GAA enzyme deficiency (any tissue source) and/or confirmed 2 pathogenic GAA gene variants Pompe patient

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

  1. 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

Secondary outcomes

  1. Creatine kinase

    Time frame: 3years

    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).

  2. motor function (Quick Motor Function Test)

    Time frame: 3 years

    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.

  3. respiratory function (forced vital capacity).

    Time frame: 3 years

    Pulmonary function will be assessed by forced vital capacity. For infants, pulmonary function tests are difficult to administer and therefore data might be limited.

Interested in participating?

Recruiting

Interested in participating?

Request Info

Sponsors and collaborators

Lead sponsor

National Taiwan University Hospital

Other

Registry information

Official study title

Long Term Follow-up for Patients With Pompe Disease Undergoing Compassionate Use and Transitioning to Medication Listed Under the National Health Insurance.

Important dates

Study start
2023
Primary completion
2036
Study completion
2036
First posted
Sep 22, 2026
Registry last updated
Sep 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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