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
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…
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…
Women with late-onset Pompe disease (LOPD) can safely use enzyme replacement therapy (ERT) during pregnancy and breastfeeding, according to a case series. Of the five reported pregnancies from three women, all were uneventful, and all five children breastfed by mothers receiving ERT exhibited normal growth and age-appropriate development.
Recent Posts
- How I’m coping with mom guilt since my daughter’s Pompe diagnosis
- ERT helps keep breathing stable during sleep in pediatric Pompe disease
- Raising a child who has never known life without Pompe disease
- Staying on Pompe therapy during pregnancy, breastfeeding is safe: Study
- Watching my daughter suffer through infusions is an emotional tug-of-war