Background:
Pompe disease is an inborn error of metabolism due to a deficiency of the enzyme acid alpha-glucosidase. The build-up of glycogen throughout the body, occurring mainly in cardiac and skeletal muscle, leads to weakness and other issues.
In March 2015, Pompe disease was added to the Recommended Uniform Screening Panel (RSUP) for newborn screening with the goal of early identification and initiation of treatment to prevent disease progression.
Objective: describe the baseline characteristics, prevalence as well as clinical outcomes of patients with Pompe Disease referred to UT Southwestern/Children’s Health Dallas from March 2015 to March 2023.
Methods: This is a retrospective chart review of a cohort of patients with confirmed diagnosis of Pompe disease. IRB approval was obtained prior to initiation of this study. We collected demographic data, symptoms prior to diagnosis, age at diagnosis, time from diagnosis to treatment initiation and clinical outcomes.
Results: There were a total of 18 patients with confirmed diagnosis of Pompe (7 females and 11 males). Seven patients were identified through newborn screening programs outside of Texas. They remained asymptomatic with normal exams, and none were started on enzyme replacement therapy (ERT). The remaining 11 patients were symptomatic, with motor delays and weakness being the most common initial presentation. The mean time from diagnosis to treatment initiation was 4 months. Ten patients remain ambulatory, one patient died secondary to infection and cardiac complications.
Conclusions: Targeted enzyme-replacement therapy (ERT) for Pompe disease can effectively slow disease progression. Identification of patients with Pompe disease through newborn screening allows appropriate surveillance and early treatment initiation. The data collected from this study supports the importance of implementing newborn screening for Pompe disease in the state of Texas.