Pompe Disease RWE Long-term Monitoring Program

National Taiwan University Hospital40 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Pompe Disease

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

National Taiwan University Hospital

Taipei, Taiwan, Taiwan

RECRUITING

Outcomes

Primary Outcomes

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

Time frame: 3years

Secondary Outcomes

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).

Time frame: 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.

Time frame: 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.

Time frame: 3 years

Central Contacts

Yin-Hsiu Chien, MD, PhD

CONTACT

+886223123456 chienyh@ntu.edu.tw

Data from ClinicalTrials.gov

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