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…
enzyme replacement therapy
A single dose of GC301, a gene therapy candidate in the pipeline at Beijing Genecradle Therapeutics, reduced the need for regular enzyme replacement therapy (ERT) for children older than 1 year with infantile-onset Pompe disease (IOPD), new study data show. For the children in the small study…
Children with Pompe disease receiving enzyme replacement therapy (ERT) generally maintained stable breathing during sleep, although some may continue to experience sleep-related respiratory issues requiring ongoing monitoring, a study in France suggests. Sleep studies showed normal oxygen levels overnight among children with Pompe, while also identifying a small…
Enzyme replacement therapy for Pompe disease — a standard treatment for the rare genetic condition — can be safely continued during pregnancy and breastfeeding, a new study indicates. In the small European study, the use of any of several approved treatments did not result in adverse effects in the…
One thing I’ve realized as a mom raising a child with Pompe disease is that I never truly know when her condition is on my daughter’s mind. I always know when it’s on mine — when I’m refilling prescriptions, making appointments, planning infusions, or quietly noticing new…
Activating a protein called TRPML1 with two experimental drugs improved the effects of enzyme replacement therapy (ERT) in cells derived from people with Pompe disease, a new study shows. Boosting TRPML1 increased the amount and cell-surface availability of M6PR, a receptor that acts as a “docking station” to…
Combining the allergy medicine omalizumab with a desensitization protocol helped a 40-year-old woman with Pompe disease overcome a persistent allergic reaction to enzyme replacement therapy (ERT), according to a case report. People with Pompe disease who experience hypersensitivity, or allergic reactions, to ERT often undergo desensitization, a strategy…
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…
When my daughter Caroline was diagnosed with late-onset Pompe disease as a baby, we started enzyme replacement therapy before her first birthday. I remember spending what felt like endless hours at our children’s hospital, meeting new doctors and nurses, going through test after test. At first, it was…
Newborn screening is uncovering signs of Pompe disease in infants months or even years before obvious symptoms appear, allowing for early treatment that can normalize markers of muscle damage, according to new research. A study tracking seven children with late-onset Pompe disease (LOPD) found that starting enzyme…
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- Home enzyme replacement therapy safe for Pompe disease children
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