spinal cord

Phrenic nerve dysfunction tied to LOPD breathing issues in study

Dysfunction of the phrenic nerve, which is important for controlling breathing, was observed in a small study of late-onset Pompe disease (LOPD) patients who had ongoing respiratory dysfunction despite enzyme replacement therapy (ERT). “Our study provide new insights regarding respiratory mechanisms in LOPD,” the researchers wrote. Should their…

Brain, spinal cord problems persist for 6 children on long-term ERT

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…

Gene Therapy Candidate Holds Promise for Correcting Pompe Disease in Muscles and Brain, Mouse Study Suggests

Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe disease is effectively delivered and leads to significant glycogen reduction at key tissues in mice, including the brain and spinal cord.