U.S., June 19 -- ClinicalTrials.gov registry received information related to the study (NCT07026578) titled 'Unravelling the Role of Apoptosis in Platelets Biogenesis Through the Study of the Thrombocytopenia THC4' on March 13.
Brief Summary: Inherited thrombocytopenias (ITs) are disorders characterized by a reduced platelet count, caused by variants in at least 40 genes. Mutations in CYCS cause a rare autosomal-dominant IT, named Thrombocytopenia 4 (THC4). The CYCS gene encodes cytochrome C (CytC), a small heme protein localized in mitochondria. It functions as an electron carrier in the respiratory chain as well as one of the main actors of the intrinsic pathway of apoptosis.
Although THC4 is the only disease associated with CYCS mutati...