Pompe Disease Treatment: Medication and Lifestyle Changes

Pompe Disease Treatment: Medication and Lifestyle Changes

Resources We Trust Cleveland Clinic: Pompe DiseaseMedlinePlus: GAA GeneNational Organization for Rare Disorders: Pompe DiseaseSouth Carolina Department of Health: When Baby Has an Abnormal Test for Pompe Disease Decreased or Absent Acid Alpha-Glucosidase (GAA)United Pompe Foundation: Clinical Trial Process Mobility Support for Mobility and Independence In young children, Pompe disease can delay or prevent developmental milestones such as …

Pompe newborn screening helps avoid years of delay for treatment

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 replacement therapy (ERT) in infancy led to significant improvements in motor function and physical development. Researchers noted th…