Pioneering Therapy Gives New Hope to Babies Lacking Thymus

Pediatric immunologist Louise Markert, MD, PhD, spent 30 years working to develop a viable treatment to save children born with congenital athymia, a group of rare diseases such as complete DiGeorge Syndrome that are characterized by the lack of a functioning thymus. Without the gland, which trains the body’s T-cells to fight pathogens, minor infections can be fatal; untreated children with congenital athymia typically die by the age of three. 

On October 8, 2021, Markert's long journey came to fruition when the U.S. Food and Drug Administration (FDA) approved a regenerative medicine based on her pioneering work as the only therapy for congenital athymia. The therapy, licensed to Ezyvant Therapeutics, uses cultured thymus tissue to generate a functioning immune system in children without a thymus. In clinical trials, children who received the treatment showed dramatically improved survival rates. FDA approval makes the new therapy available beyond clinical study.

"This really has been the culmination of my career at Duke. It's just overwhelming how happy one can be, helping these children," Markert said. 

There's more to come. The foundation set by her research is expanding transplant opportunities, as seen by the recent combination heart/thymus transplant in a baby at Duke that represents a milestone in heart transplantation.