Pompe disease patients are now surviving into adulthood after Duke research

A study reports that enzyme replacement therapy developed at Duke and approved in 2006 has allowed some infantile-onset Pompe patients from early clinical trials to reach their 20s.

Researchers at Duke University developed an enzyme replacement therapy for Pompe disease that was later approved by the FDA in 2006. A new study in Genetics in Medicine reports that patients treated in Duke's original clinical trials for infantile-onset Pompe are now surviving into their 20s. The article highlights Haley Hayes, who was diagnosed at six months and experienced congestive heart failure before receiving the therapy. Haley still uses mobility equipment and weekly infusions and plans to graduate with an Associate's degree in May 2026. Key details: - Enzyme replacement therapy for Pompe disease was developed at Duke and received FDA approval in 2006. - Dr. Priya Kishnani led the original clinical trials at Duke that tested the treatment. - A study published in Genetics in Medicine describes members of the first trial cohort who are now living into adulthood. - Haley Hayes was diagnosed at six months, went into congestive heart failure, and received the therapy that changed her prognosis. - Haley is 20, has used braces and wheelchairs, receives weekly infusions, and plans to pursue social work after graduating in May 2026. Summary: Duke's early research and the FDA-approved enzyme replacement therapy have changed the outlook for some people with infantile-onset Pompe, with trial participants now reaching adulthood. Clinicians quoted in the article say these outcomes demonstrate progress in survival while highlighting ongoing care and support needs for young adults with Pompe.