Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

This study tests a custom-made drug for one child with a rare, severe brain disease called CONDBA, caused by a specific gene mutation. The drug aims to slow or stop brain damage by targeting the faulty gene. Researchers will track changes in movement, coordination, and quality of…

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed specifically for one person with Bainbridge-Ropers syndrome, a rare genetic condition that causes developmental delays. The drug aims to correct the effects of a specific ASXL3 gene mutation. T…

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 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 tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This study examines how often healthcare workers in a hospital's intensive care unit (ICU) experience physical, verbal, or sexual assaults from patients or their relatives. Researchers will review medical records of 865 adults who were in the ICU and had a reported incident of vi…

This study follows nearly 600 people with Smith-Magenis syndrome (SMS), a rare genetic condition, to track how their health, behavior, and development change over time. Researchers will perform detailed medical exams, genetic tests, and surveys to better understand the syndrome's…

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …