Enzyme-replacement therapy improves outcomes in Pompe disease
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Key takeaways:
- Researchers analyzed 19 children with Pompe disease seen at a Texas-based children’s hospital.
- Enzyme-replacement therapy led to symptom improvement in most of the patients.
Enzyme-replacement therapy may slow disease progression and improve motor function in children with Pompe disease, according to a poster from the 2024 Muscular Dystrophy Association Clinical & Scientific Conference.
“Pompe disease is an inborn error of metabolism due to a deficiency of the enzyme acid alpha-glucosidase,” Zurisadai Gonzalez, MD, a pediatric neurologist at the Children's Medical Center, University of Texas Southwestern Medical Center, and colleagues wrote. “The build-up of glycogen throughout the body, occurring mainly in cardiac and skeletal muscle, leads to weakness and other issues.”
As Pompe disease was added to the Recommended Uniform Screening Panel for newborns in March 2015, Gonzalez and colleagues sought to describe the characteristics, prevalence and clinical outcomes for the condition in children referred to UTSW and Children’s Health Dallas through a retrospective chart review.
They analyzed patient information for 19 children diagnosed with Pompe (63.1% boys) and admitted between March 2015 and March 2023, collecting demographic data, symptoms prior to diagnosis, age at diagnosis, time from diagnosis to treatment initiation and clinical outcomes.
Seven patients were identified through newborn screening programs outside of Texas. All of the patients were asymptomatic with normal exams. None were started on enzyme replacement therapy (ERT). The remaining 12 patients were symptomatic. Of that population, three presented with infantile-onset Pompe along with cardiomyopathy, while eight presented with motor delays and weakness.
The mean time from diagnosis to treatment initiation was 4 months. Sixteen patients recorded improvement with ERT initiation, one became non-ambulatory and one death was recorded. An additional patient who was recently diagnosed with Pompe did not receive treatment.
“The data collected from this study supports the importance of implementing newborn screening for Pompe disease in the state of Texas,” Gonzalez and colleagues wrote.