While most adults on Myozyme (alglucosidase alfa) for late-onset Pompe disease develop antibodies to the replacement enzyme, these usually do not limit efficacy; however, high and sustained levels of neutralizing antibodies are linked to more infusion-associated reactions and may lead some patients to stop therapy, a study found. The…
enzyme replacement therapy (ERT)
Children with infantile-onset Pompe disease (IOPD) who start enzyme replacement therapy (ERT) within the first month of life have healthier hearts than those who start the treatment later, a study found. “Our findings support the benefit of early ERT initiation in IOPD, particularly for cardiac outcomes,” the researchers…
When our daughter Caroline was diagnosed with Pompe disease through newborn screening in 2018, our world turned upside down. We were suddenly lost, searching for answers amid a flood of tests, labs, and medical opinions. We chose to start enzyme replacement therapy (ERT) within her first 12 months.
Pompe disease patients bear a substantial burden from coexisting conditions and the ongoing need for supportive care, despite treatment with enzyme replacement therapy (ERT), a real-world study in the U.S. found. Researchers also found a relatively high rate of ERT discontinuation, particularly among people with late-onset Pompe…
Locations where antibodies bind to enzyme replacement therapy (ERT) and potentially reduce its effectiveness in treating Pompe disease can now be identified using a drop of blood, a study reports. Knowing where anti-ERT antibodies bind may help find interventions to diminish the immune responses that generate them and also…
Late-onset Pompe disease (LOPD) patients who received severely under-dose treatment with enzyme replacement therapy (ERT) had a decline in physical quality of life, but an improvement in overall health, during a 14-month follow-up, a study in China shows. Being employed or enrolled in school predicted improved mental quality…
Infantile-onset Pompe disease (IOPD) patients who develop antibodies against enzyme replacement therapy (ERT) exhibit a distinct immune profile from those who don’t, according to recent research. Patients who developed these so-called high and sustained antibody titers, or HSAT, were skewed toward a type 2 immune profile, which the…
Despite being on enzyme replacement therapy (ERT) for a long time, some children with infantile-onset Pompe disease (IOPD) can still develop problems in the brain and spinal cord, a small study suggests. Manifestations such as overactive bodily reflexes, encephalopathy (damage to the brain), and…
Some children with Pompe disease have dysfunctional motor neurons — the specialized nerve cells that control movement — in addition to muscle abnormalities, a new study highlights. Findings from the small study suggest that patients with motor neuron impairment may be less likely to see clinical benefits from…
Starting people with late-onset Pompe disease on enzyme replacement therapy (ERT) at any age can benefit their bone health, including reducing the risk of weak, brittle bones, or osteoporosis, a small study suggests. The study, “Effects of enzyme replacement therapy on bone density in late onset Pompe…
Recent Posts
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- Pompe study ties high antibodies to infusion reaction risk
- Home infusions take us to as close to normal as I ever thought we’d get
- Immune changes seen in late-onset Pompe may affect treatment response
- Some decisions don’t feel like choices in our Pompe disease journey