Steroid inherited metabolic disorder

This study looked at the long-term safety of a medication called Chronocort in 76 people aged 16 and older with congenital adrenal hyperplasia (CAH), a condition where the body can't make enough cortisol. Researchers monitored for signs of over- or under-treatment, adrenal crises…

This phase 2 trial tested a new drug called SPR001 in 24 adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that disrupts hormone production. The study aimed to see if SPR001 is safe and can improve hormone control. Participants took multiple doses of t…

This study tested a new oral drug called atumelnant in 38 adults with classic congenital adrenal hyperplasia, a genetic condition causing hormone imbalances. The drug works by blocking a hormone receptor to lower excess adrenal hormones. Researchers measured safety, side effects,…

This completed study looked at newborn screening for congenital adrenal hyperplasia (CAH) in Italy. Researchers reviewed medical records of 29 infants diagnosed with classic CAH between 2006 and 2019 to see how accurate the screening was. The goal was to measure the screening's s…

This study evaluates the long-term cognitive development of children who were exposed to dexamethasone (a steroid) while in the womb because they were at risk for congenital adrenal hyperplasia (CAH). The goal is to see if the drug causes any thinking or memory problems. Research…

This completed study investigated why patients with Cytochrome P450 Oxidoreductase (POR) deficiency, a rare genetic condition, often develop high blood pressure and blood vessel damage. Researchers compared 51 participants (patients and healthy controls) using 24-hour blood press…