Pediatric congenital athymia

Pediatric congenital athymia is a rare and deadly condition associated with DiGeorge Syndrome (cDGS), CHARGE syndrome, and FOXN1 deficiency. Children with congenital athymia are born without a thymus, resulting in a severe immunodeficiency due to the inability to produce normally functioning T cells, which defend against infection and regulate essential processes in the immune system. Approximately 20 infants are born each year in the United States with congenital athymia, which is fatal if untreated. Death typically occurs in the first 24 months of life due to susceptibility to infection. Currently, there are no FDA-approved therapies for this condition.

Enzyvant is developing RVT-802, a novel investigational tissue-based regenerative therapy designed to treat pediatric congenital athymia. RVT-802 stimulates and facilitates the body’s production of naive, immunocompetent T cells, with the goal of bolstering the immune system and restoring the body’s ability to fight infection. Investigational RVT-802 is designed to be administered as a single treatment.

For more information about pediatric congenital athymia, we encourage you to visit https://www.omim.org/entry/188400

Patient and Family Support

In 2018, Global Genes, a non-profit patient advocacy organization for individuals and families fighting rare and genetic diseases, hosted the first pediatric congenital athymia family conference, an event financially supported by Enzyvant.

Watch Highlights from the Conference

For more information about Global Genes, please visit https://globalgenes.org

Sydney Complete DiGeorge Anomaly Patient

Meet Sydney. She was born with pediatric congenital athymia and successfully underwent an experimental surgical procedure at Duke University with RVT-802. Enzyvant licensed RVT-802 from Duke University in 2016 and is now pursuing FDA approval of the investigational product.