GENETIC DISEASE

This study tests a personalized drug called nL-TUBB4-001, designed specifically for one child with TUBB4A-related leukodystrophy, a rare genetic disease that damages the brain. The drug is an antisense oligonucleotide, which aims to correct the genetic error. The trial will monit…

This study tests a custom-made drug called an antisense oligonucleotide in a single person with TUBB4A-related leukodystrophy, a rare genetic disorder that affects the brain's white matter. The drug is designed to target the specific genetic mutation causing the disease. Research…

This study looks at whether whole genome sequencing can help doctors diagnose genetic disorders faster in newborns admitted to intensive care. Researchers will compare the time to diagnosis and care costs for 400 infants who receive this advanced genetic test versus standard test…

This study tests a training program that teaches children with physical disabilities how to use their manual wheelchairs better. The goal is to help them move around on their own instead of relying on others, which can improve their confidence and social life. Four children aged …

This study looks at two ways to share important genetic findings with people who joined a biobank. Some participants will get their results through a website or chatbot, while others will speak with a genetic counselor by phone or video. The goal is to see if the digital method w…

This study looks at whether a motivational interview—a 20-40 minute phone or video chat—can help people with familial hypercholesterolemia (FH) get their cholesterol checked and talk to family about screening. About 300 people with suspected or confirmed FH will be randomly assig…

This study follows 286 adults with Alpha-1 Antitrypsin Deficiency, a genetic condition that can damage the lungs and liver. Researchers use CT scans and blood tests over three years to see how lung density changes. The goal is to find biological markers that could help design bet…

This study tests a computer program called SIGHT that uses information already in a child's medical records to predict if they might have an undiagnosed genetic disease. Researchers will randomly assign 1,000 children visiting their pediatrician to either have their doctor receiv…

This study looks at whether a power wheelchair that can lift a child from sitting to standing is practical for kids with conditions like cerebral palsy, spinal cord injuries, or genetic diseases. Only 4 children aged 5-17 are taking part. The goal is to see if the chair helps the…

This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.