Home enzyme replacement therapy safe for Pompe disease children
Researchers recommend that children initially receive treatment in the hospital
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Home infusions of enzyme replacement therapy (ERT) are safe for children with Pompe disease after an initial period of hospital-based treatment, a Dutch study spanning more than 20 years found.
Infusion-associated reactions occurred in fewer than 5% of nearly 12,000 infusions, and most were mild. About half of these reactions did not need medical intervention. The researchers noted that their protocol used slow infusions to reduce the risk of infusion-associated reactions.
“Home-based ERT can greatly improve the quality of life for patients and their families,” researchers wrote.
The study, “Home Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years Across the Spectrum From Classic Infantile to Late-Onset Phenotypes,” was published in BioDrugs.
Home ERT infusions may enable more ‘normal’ childhood
Pompe is caused by mutations in the GAA gene that result in missing or defective acid alpha-glucosidase, an enzyme that helps break down glycogen, the body’s stored form of sugar. As glycogen builds up inside cells — particularly muscle cells — it causes progressive muscle weakness, including the muscles involved in breathing.
ERT, the standard treatment for Pompe disease, works by providing patients with a working version of the GAA enzyme. Home infusions of ERT may offer several advantages, including lower treatment burden, better quality of life, and less stress.
“In children, home- and school-based infusions have the added benefit of enabling a more “normal” childhood, allowing for regular school attendance and greater participation in daily life and social activities,” the team noted. However, “while ERT in the home situation is increasingly common in adults with Pompe disease, experience in children remains limited due to higher dosing requirements and increased risk of infusion-associated reactions.”
Most infusion-associated reactions were mild
In this study, researchers in the Netherlands assessed the safety of hospital- and home-based ERT infusions in children with Pompe disease between 1999 and 2022. A total of 11,898 infusions were administered to 52 patients, 27 with classic infantile, two with nonclassical infantile, and 23 with childhood-onset Pompe disease.
Most infusions (55.6%) were given at home, although all patients initially received treatment in the hospital. Patients transitioned to home infusions after a median of 1.8 years of hospital-based treatment.
The vast majority of infusions (86.3%) followed the standard schedule, while 13.7% used an adjusted schedule, mainly to help prevent or manage infusion-associated reactions. Adjusted infusions took longer, lasting a median of almost 6.4 hours compared with five hours for standard infusions. Patients with classic infantile Pompe disease were more likely than those with other forms of the disease to require an adjusted schedule.
Infusion-associated reactions, or side effects that occur during or shortly after an ERT infusion, were reported in 568 infusions (4.8%) among 30 patients, and most were mild. Most children who experienced these reactions had their first event in the hospital. Nineteen patients experienced their first reaction within the first year of treatment (63.3%).
Conditions for safe home infusion include administration of the infusion by a trained home nurse who remains present throughout the entire duration of the infusion.
Overall, 21 severe reactions were reported in 12 children, almost all in the classic infantile Pompe group. Ten of these patients had high levels of antibodies against ERT. The most common symptoms included localized or widespread skin rashes and higher body temperature, and typically occurred about three hours after the infusion began.
About half of the reactions did not require treatment. When intervention was needed, the most common approach was to temporarily pause the infusion and restart it later. Following a reaction, doctors commonly used preventive medication, such as antihistamines or corticosteroids, or slowed the infusion rate for subsequent treatments. Only a small proportion of reactions required the infusion to be stopped completely.
The researchers noted that “the majority of [infusion-associated reactions] were mild and manageable,” and that they “rarely posed a clinical problem.”
Based on their experience, the researchers recommended that children initially receive ERT in the hospital, with home treatment considered after about one year if infusions have been well tolerated and no infusion-associated reactions have occurred. If reactions develop, treatment can be moved back to the hospital.
“Conditions for safe home infusion include administration of the infusion by a trained home nurse who remains present throughout the entire duration of the infusion,” the scientists noted.
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