Summary: Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The primary aim is to assess, by NGS sequencing of a panel of target genes, the frequency and type of variants with potential pathogenic significance in a patient population with congenital hypothy...

Summary: Observational, retrospective, prospective, pharmacological, single-centre, non-profit study. The aim is to evaluate, in newborns diagnosed with Congenital Hypothyroidism, the medium- and long-term efficacy and safety of the new formulation of levothyroxine in oral solution, compared to the liquid drop formulation and the tablet formulation. The study will involve male and female patients referred ...

Summary: Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a pane...