Steroid metabolism disease

This study looks at how the drug crinecerfont works in babies under 2 years old with congenital adrenal hyperplasia (CAH), a condition where the body can't make certain hormones properly. The goal is to measure drug levels in the blood and check for side effects. Only 7 infants a…

This study tests a drug called crinecerfont in adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that requires lifelong steroid treatment. The goal is to see if crinecerfont can safely reduce the daily steroid dose needed while keeping hormone levels u…

This study tests three ways emergency responders help children breathe: a bag-mask, a throat tube, or a breathing tube. It includes 3,000 children under 18 with cardiac arrest, severe injury, or breathing failure. The goal is to see which method leads to more days alive and out o…

This early-phase trial tests a gene therapy called BBP-631 for classic congenital adrenal hyperplasia (CAH), a genetic condition that forces patients to take daily steroids. The therapy uses a harmless virus to deliver a working copy of the faulty gene. Only 8 adults are enrolled…

This phase 2 trial tests whether metyrapone, a drug that lowers cortisol production, is safe and effective for people with mild autonomous cortisol secretion (MACS). About 30 participants will take the drug for a period, and researchers will track side effects and cortisol levels…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is …

ScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…

This study tests whether special slip-resistant shoes can help dairy workers avoid slipping on wet, slippery floors. About 22 full-time employees at a Danish dairy will wear different shoes and rate how slippery they feel each day. The goal is to find footwear that reduces fall r…

This study followed children and young adults with genetic liver diseases that cause bile buildup. The goal was to track how these diseases progress over time, including the need for liver transplants or other complications. No treatments were tested; the aim was simply to learn …

This study follows 450 infants and their families from birth to age 12 to learn how a child's biology and home environment work together to shape eating habits and growth. Researchers collect samples, measurements, and surveys at regular visits. The goal is to understand what inf…

This pilot study aimed to see if a self-paced virtual education video could help adolescents and young adults (ages 16-22) with congenital adrenal hyperplasia (CAH) become more independent in managing their health. Participants would have been split into two groups: one watching …

This study planned to test whether an 8-week course of a flavored drink containing essential amino acids plus arginine could reduce liver fat and improve metabolism in obese children aged 7-10. The researchers intended to measure changes in liver fat, blood fats, insulin sensitiv…