U.S., March 27 -- ClinicalTrials.gov registry received information related to the study (NCT06895746) titled 'Multi-omics Study in Citrin Deficiency' on March 19.
Brief Summary: Citrin deficiency (CD) is an underdiagnosed and understudied condition characterized by several distinct phenotypes: 1) NICCD, 2) the adaptation or silent period, 3) FTTDCD, and 4) CTLN2, with the latter representing the final and most severe form of the condition. There is currently no cure for CD and patients manage their symptoms with lifelong dietary intervention and regular checkups with their physicians. A major hurdle in developing effective treatments for CD is the lack of effective biomarkers that track well with disease severity or measure the effectivene...