Active — Not RecruitingPhase 4

Safety and Efficacy of Avalglucosidase Alfa in Patients With Non-classic Pompe Disease Aged ≥ 5 Years

Netherlands6 participantsStarted 2022-10-13

Plain-language summary

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: * Is switching to avalglucosidase alfa in late-onset Pompe patients deteriorating on alglucosidase alfa safe? * Is switching to avalglucosidase alfa in late-onset Pompe patients deteriorating on alglucosidase alfa potentially more effective? Participants will switch to biweekly avalglucosidase alfa infusions (instead of alglucosidase alfa infusions) and perform assessment for: * Efficacy: muscle strength and function, pulmonary function, patient-reported outcomes. * Safety: Adverse events assessment, physical examination, clinical laboratory evaluations, vital signs, ECGs and immunogenicity assessments. * Pharmacokinetic assessments during 2 avalglucosidase alfa infusions.

Who can participate

Age range

5 Years – 55 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Age\> 5 years and \< 55 years * Childhood or juvenile/adult onset * Residing in the Netherlands * Current ERT with alglucosidase alfa\> 2 years (dose regimen 20 or 40 mg/kg bi-weekly). * Confirmed diagnosis: enzyme deficiency in any tissue source and/or 2 confirmed disease-causing variants in the GAA gene. * Willing and able to adhere to study procedures * Deterioration in pulmonary function and/or 6MWT and/or muscle strength despite current treatment regimen with alglucosidase alfa. * Disease status: measurable pulmonary (dys)function: (F)VC ≤ 80% predicted (mechanic ventilation during the day or night allowed); Measurable muscle weakness in proximal and/or distal muscle groups (non- ambulant/wheelchair bound patients allowed); measurable functional ability Exclusion Criteria: * Age\>55 years * Invasive mechanical ventilation * No remaining useful functional ability, as decided by the treating physician * Unmanageable, sever IAR's on alglucosidase alfa * Deterioration due to high levels of anti-alglucosidase alfa antibodies interfering with treatment efficacy * Female patient of childbearing potential not protected by highly effective contraceptive method of birth control and/or who is unwilling or unable to be tested for pregnancy

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Incidence/occurrence of adverse events

Timeframe: From enrollment to the end of study duration at 5 years

The occurence of antibodies against avalglucosidase alfa

Timeframe: From enrollment to the end of study duration at 5 years

Clinical laboratory evaluations aimed at liver and muscle function.

Timeframe: From enrollment to the end of study duration at 5 years

Changes in muscle strength using manual muscle testing (MMT)

Timeframe: From enrollment to the end of study duration at 5 years

Changes in muscle strength using hand-held dynamometry (HHD)

Timeframe: From enrollment to the end of study duration at 5 years

Changes in muscle function using Quick Motor Function Test (QMFT)

Timeframe: From enrollment to the end of study duration at 5 years

Changes in muscle function using the 6-Minute Walk Test (6-MWT)

Trial details

NCT IDNCT07652814

SponsorIris Plug

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2028-03-09

View on ClinicalTrials.gov More Glycogen Storage Disease Type II Late Onset trials