New Therapy for Kids With Pompe Disease

Enzyme replacement therapy created by U.S. researchers extends life in kids with Pompe disease, a rare genetic disorder usually fatal by age one.

Pompe disease occurs in as many as one in 40,000 births and causes profound muscle weakness, heart, and breathing problems. It is caused by a deficiency in the enzyme acid a-glucosidase (GAA), which helps break down glycogen so it can release glucose.

Researchers at Duke University in Durham, North Carolina, led by Priya Sunil Kishnani, developed a recombinant form of human GAA (rhGAA) and administered it to 18 children under six months of age with rapidly progressing Pompe disease.

All of the children survived to at least 18 months of age, and 15 also did not need a ventilator. The most common side effects were rashes, hives, fever, and changes in heart rate.

This form of enzyme replacement therapy markedly extended survival and improved respiratory performance in these children, said Kishani, “with a majority of them showing normal growth and substantial gains in motor development. This study demonstrates that starting enzyme replacement therapy early, which could be facilitated by newborn screening, shows great promise to reduce the mortality and disability of babies with this devastating disorder.

The study appears in the current online edition of the journal Neurology.