AVA
An Open Label, Single Center, Exploratory Study of the Safety and Efficacy of Avalglucosidase Alfa Patients With Non-classic Pompe Disease Aged ≥ 5 Years
Sponsor study identifier
Secondary identifiers
interventional
6
1 country
1
Study Start
October 13, 2022
Actual (reported)Primary Completion
March 9, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
March 9, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
The goal of this clinical trial is to study the efficacy and safety of treatment with avalglucosidase alfa in patients with late onset Pompe disease that previously deteriorated on alglucosidase alfa. The main question it aims to answer is:
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
March 9, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Some registry-reported names shown below are not yet linked in this graph.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
October 13, 2022
Actual (reported)November 1, 2022
Actual (reported)June 17, 2026
Actual (reported)March 9, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
March 9, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Incidence/occurrence of adverse events
Assessment of the occurrence/number of adverse events / treatment-emergent adverse events, including infusion associated reactions (IARs). Adverse events are scored using the Common Terminology Criteria for Adverse Events (CTCAE), version 5.0.
From enrollment to the end of study duration at 5 years
The occurence of antibodies against avalglucosidase alfa
The titer of antibodies against avalglucosidase alfa, scored as either no to low antibodies (\< 1:1,250), intermediate (1:1,250 to \< 1:31,250), or high (≥ 1:31,250).
From enrollment to the end of study duration at 5 years
Clinical laboratory evaluations aimed at liver and muscle function.
Values of ASAT, ALAT and CK (measured in U/L) as markers for muscle and liver function.
From enrollment to the end of study duration at 5 years
Changes in vital signs using heart rate
From enrollment to the end of study duration at 5 years
Changes in vital signs using blood pressure
From enrollment to the end of study duration at 5 years
Changes in vital signs using respiratory rate
From enrollment to the end of study duration at 5 years
Changes or abnormalities of cardiac function measured by electrocardiogram (ECG)
From enrollment to the end of study duration at 5 years
Assessment of use of ventilator
From enrollment to the end of study duration at 5 years
Treatment with avalglucosidase alfa, 20 mg/kg/every other week for a period of 5 years.
Enzyme replacement therapy
Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.
Erasmus MC
Rotterdam, 3015 GD, Netherlands
Nadine van der Beek, MD PHD
Erasmus Medical Center
First Submitted
November 1, 2022
First Posted
June 17, 2026
Study Start
October 13, 2022
Actual (reported)Primary Completion
Changes in muscle strength using manual muscle testing (MMT)
Manual muscle testing (MMT) is performed using the Medical Research Council (MRC) grading scale. Muscle strength is graded from 0-5 by physical examination, in which grade 5 represents normal muscle strength and grade 0 means paralysis of the muscle group tested.
From enrollment to the end of study duration at 5 years
Changes in muscle strength using hand-held dynamometry (HHD)
Muscle strength will also be measured with the Cytec handheld dynamometer (HHD). A mean value in Newton is calculated from three consecutive measurements per muscle group.
From enrollment to the end of study duration at 5 years
Changes in muscle function using Quick Motor Function Test (QMFT)
For the quick motor function test, the patient is asked to perform several activities in supine, sitting and standing position, the performance of the patient is scored on a 5-point ordinal scale (range 0-4). A sumscore is calculated based on the maximum total score.
From enrollment to the end of study duration at 5 years
Changes in muscle function using the 6-Minute Walk Test (6-MWT)
The 6MWT is a timed test that measures functional endurance. The primary measurement is the distance walked in 6 minutes, measured in meters. The percent of predicted distance and the amount of time walked (to quantify endurance, as not all patients may complete the full 6-minute walk) will also be recorded. Eventual score is reported as a distance in meters (m) and a percent of the predicted score using the 1000 norms reference values.
From enrollment to the end of study duration at 5 years
Changes in muscle function using timed tests
Four timed tests will be performed to evaluate the impact of muscle weakness on the ability to perform functional activities of daily living. These timed tests include walking 10 meters, climbing four stairs, getting up from a supine position on the floor, and standing up from a chair. The number of seconds required to perform each activity will be noted.
From enrollment to the end of study duration at 5 years
Changes in pulmonary function using forced vital capacity (FVC)
Forced vital capacity in sitting and supine position will be measured and reported as percentage of predicted values, using the GLI 2012 reference values.
From enrollment to the end of study duration at 5 years
Changes in pulmonary function using Maximum Inspiratory Pressure (MIP) and Maximum Expiratory Pressure (MEP)
Both MIP and MEP are measured in kPa and then converted to a percentage of predicted values based on reference values.
From enrollment to the end of study duration at 5 years
Changes in patient reported outcome (PRO) measures using the Rasch-built Pompe-specific Activity scale (R-PAct)
The Rasch-Built Pompe-specific activity scale (R-PAct) will be performed in all patients who are ≥16 years at baseline. The R-PAct scale is a self-reported, 18-items questionnaire designed specifically for use in patients with Pompe disease, based upon experiences from patients about their most important and limiting aspects in daily life. All items have three response options: \[0\] unable to perform; \[1\] able to perform, but with difficulty or \[2\] able to perform without difficulty. If all items are answered, an appropriate centile metric score (range 0-100) will be calculated.
From enrollment to the end of study duration at 5 years
Changes in patient reported outcome (PRO) measures using the 36-Item Short Form Health Survey (SF-36)
The SF-36 is a health-related quality of life questionnaire, consisting of 36 items. The items are assigned to the domains of physical functioning, role functioning-physical, role functioning- emotional, social functioning, body pain, mental health, vitality, general health perception and change in health. The questionnaire will be used only for patients aged 16 years and older. A sumscore will be calculated based on the score on each item, and converted to a percentage of predicted score based on Dutch norm-based values.
From enrollment to the end of study duration at 5 years
Changes in patient reported outcome (PRO) measures using the TNO-AZL Child Quality of Life Questionnaire)
The TACQOL (TNO-AZL Child Quality of Life Questionnaire) is a generic instrument that measures quality of life in children aged 6-15 years. The questionnaire includes items representing the following concepts: physical complaints, motor functioning, autonomous functioning, social functioning, cognitive functioning, positive moods, and negative moods. For each of these scales, a scale score is calculated, where a higher score corresponds with a better quality of life.
From enrollment to the end of study duration at 5 years
Changes in patient reported outcome (PRO) measures using the modified Borg scale
The modified Borg scale is a patient-reported scale, derived from the original Borg scale, which is used to assess the subjective sensation of dyspnea of a patient. It is quantified from 0 to 10, in which 0 represents no symptoms (i.e. no dyspnea/shortness of breath) and 10 represents maximum symptoms.
From enrollment to the end of study duration at 5 years
Pharmacokinetics of avalglucocidase alfa
Single and multiple dose estimates for Cmax (in µg/mL), AUC (in μg∙hr/ml) and CL (in L/h), measured at two separate avalglucosidase alfa infusions (at baseline and 52 weeks).
From enrollment up to 1 year of study duration.
Contact the study team to confirm eligibility.
March 9, 2028
Planned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
March 9, 2028
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
June 17, 2026
Record last verified: 2026-06
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Source: ClinicalTrials.gov.
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