Newborn screening detects late-onset Pompe disease, allows for early intervention

Newborn screening (NBS) can facilitate the early detection of late-onset Pompe disease, leading to timely intervention, a recent study has found.

Researchers conducted a prospective observational cohort study of 994,957 newborns screened between 2005 and 2018, of whom 55 were identified with Pompe disease. The resulting incidence rate was one in 18,090 cases. Of these, 16 showed hypertrophic cardiomyopathy at the time of diagnosis, and their condition was classified as infantile-onset.

The remaining 39 Pompe newborns showed no cardiac involvement at the time of diagnosis. Their condition was classified as late-onset Pompe disease, yielding an incidence rate of one in 25,512 cases.

As of December 2020, approximately 15 years after the earliest infants were screened, eight of the 39 late-onset Pompe disease patients were on enzyme replacement therapy (ERT). The resulting rate of treatment was 21 percent. Main indications for ERT included persistent elevations of creatinine kinase levels, cardiac involvement, or developmental delay.

All treated patients showed improvements in physical performance and endurance.

“This study highlights the importance of long-term follow-up of NBS data,” the researchers said. “We demonstrated the early clinical and biochemical manifestations of late-onset Pompe disease and may be able to predict late-onset Pompe disease after newborn screening.”

“We also demonstrated favorable early treatment outcomes in patients with late-onset Pompe disease, even though residual pathology characterized by abdominal and pelvic muscle weakness still exists,” they added.