ATL-001: Congenital Erythropoietic Porphyria (CEP)

Our lead project targets the autosomal recessive deficiency in the uroporphyrinogen III synthase (UROIIIS) enzyme in the haeme group biosynthetic pathway. Deficiency in UROIIIS leads to a build-up in the body of porphyrins in high concentration (e.g., in bone, the bone marrow, red blood cells, plasma, urine, faeces, teeth, and skin) which are damaging to tissues resulting in a range of significant symptoms for patients. To date, 32 missense mutations producing CEP have been reported in the literature, a vast majority of which result in an increase in the kinetic aggregation rate of UROIIIS. This project is at the clinical phase stage.