Table of contents

• Trial overview
• Who is being studied
• What the trials measure
• Trial phases and status
• Main trials included here
• Patient-friendly terms

Trial overview

The trials of Avalglucosidase Alfa in this dataset are all studying Pompe disease, which is also called glycogen storage disease type II or acid maltase deficiency.^{[1][2][3][4][5]} These are interventional studies, which means the researchers give a treatment and then measure what happens.^{[1][2][3][4][5]}

All listed studies are Phase 3 trials, so they are looking at treatment effects in people and collecting important safety and benefit data.^{[1][2][3][4][5]} The studies include different groups, such as infants, children aged 5 years and older, adults with non-classic or late-onset disease, and French participants who already finished earlier studies.^{[1][2][3][4][5]}

Who is being studied

One trial studies treatment-naïve patients, which means people who have not yet received enzyme replacement therapy for Pompe disease.^[4] Another trial focuses on infants with infantile-onset Pompe disease who are 6 months of age or younger.^[5] A different trial includes patients aged 5 years and older with non-classic Pompe disease whose condition is getting worse while on standard treatment with alglucosidase alfa.^[3]

The TRIPO study looks at selected older adults with late-onset Pompe disease who are stable, meaning they do not need a wheelchair or daytime respiratory support and are not thought to be at immediate risk of losing important daily activities.^[2] The French post-trial access study includes participants who completed earlier studies and are continuing access to treatment in France.^[1]

What the trials measure

The main outcomes vary by study, but they all focus on how well the treatment works and how safe it is.^{[1][2][3][4][5]} In the infant study, the main result is whether the child is alive and free of invasive ventilation at Week 52, which means not needing a breathing tube connected to a machine.^[5]

In the TRIPO study, researchers measure muscle strength, muscle function, lung function, walking ability, and patient-reported outcomes such as quality of life.^[2] In the non-classic Pompe disease study, researchers also check antibodies against Avalglucosidase Alfa, blood tests for liver and muscle function, and drug levels in the body, along with the same types of muscle, lung, and quality-of-life measures.^[3]

The glycogen response study measures the change in glycogen concentration in the hamstring muscles from the start of the study to 12 months.^[4] The French post-trial access study mainly tracks safety, including adverse events, treatment-emergent adverse events, infusion associated reactions, and death.^[1]

Trial phases and status

Each listed trial is in Phase 3, which is a later stage of clinical research.^{[1][2][3][4][5]} Four of the trials are marked Authorised, and one is marked Completed.^{[1][2][3][4][5]}

The enrollment numbers are small in these studies, ranging from 6 to 21 participants.^{[1][2][3][4][5]} This is common in rare diseases, where fewer people are available for research.

Main trials included here

• NCT05164055: A French post-trial access study for participants with Pompe disease. It is designed to assess long-term safety after earlier studies, until reimbursement in France or September 2026, whichever comes first.^[1]
• 2024-514255-15-01: The TRIPO study. It explores whether treatment every 4 weeks may be enough instead of every 2 weeks in a selected group of stable older adults with late-onset Pompe disease.^[2]
• 2024-518215-18-00: A study in patients aged 5 years and older with non-classic Pompe disease whose condition worsens on standard treatment with alglucosidase alfa. It measures safety, tolerability, pharmacokinetics, and several signs of benefit.^[3]
• 2023-508000-37-01: A study in treatment-naïve Pompe disease patients that looks at how muscle glycogen changes after enzyme replacement therapy over 12 months.^[4]
• NCT04910776: A completed study in infants 6 months old or younger with infantile-onset Pompe disease. It tested whether participants were alive and free of invasive ventilation at Week 52.^[5]

Patient-friendly terms

Invasive ventilation means breathing support through a tube placed in the airway.^[5] Manual muscle testing and hand-held dynamometry are ways to measure muscle strength by asking the patient to push or pull against the examiner or a device.^[2][3]

6-minute walk test measures how far a person can walk in 6 minutes, so it helps show physical ability in daily life.^[2][3] Forced vital capacity is a breathing test that measures how much air a person can blow out after taking a deep breath, and it is checked while sitting and lying down.^[2][3]

Adverse events are unwanted health problems that happen during a study, and infusion associated reactions are reactions that happen during or soon after the medicine is given through a vein.^[1][3]