Rare Disease
We aim to develop life-altering medicines for rare diseases where either limited options exist or current therapies fail to address the underlying disease.
Pediatric Congenital Athymia
Pediatric congenital athymia is an ultra-rare condition in which children are born without a thymus, which may cause profound immunodeficiency, vulnerability to potentially fatal infections, and life-threatening immune dysregulation. Pediatric congenital athymia affects 17 to 24 infants born each year in the U.S. In a natural history study, congenital athymia patients on supportive care alone did not survive beyond 2-3 years of age.
Pediatric congenital athymia is initially detected by T-cell deficiency observed in newborn screening for SCID (severe combined immune deficiency), which is now required in all 50 U.S. states. The “T” in T cell stands for thymus because it is where T cells are selected to fight infections or are destroyed if they have the potential to attack the body instead of invaders. SCID and congenital athymia are both primary immunodeficiency disorders, but they are distinct conditions.
17 to 24
Infants born each year affected with congenital athymia in the U.S.
