GENETIC DISEASE

This study tests an experimental drug called an antisense oligonucleotide in one person with TUBB4A-related leukodystrophy, a rare genetic disorder that damages the brain's white matter. The goal is to see if the treatment can improve or stabilize movement problems like dystonia …

This study tests a custom-made drug (called an antisense oligonucleotide) designed specifically for one child with TUBB4A-related leukodystrophy, a rare genetic brain disease. The goal is to see if the drug is safe and can improve movement, development, and quality of life. Only …

This study tests a computer program called SIGHT that uses existing health records to flag children who might have an undiagnosed genetic disease. The goal is to see if prompting doctors to offer genetic testing leads to faster diagnosis and more answers. About 1,000 children age…

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 to track how lung density changes over three years. The goal is to find better ways to measure disease progression,…

This study looks at large DNA changes in 10,000 people with rare genetic disorders or brain conditions. Researchers will map the exact location of these changes and study how they affect gene activity. The goal is to improve genetic testing and find new targets for treatments.

This study looks at whether a powered wheelchair that lets children stand up can help them take part more in everyday activities. It includes children aged 5-17 with conditions like cerebral palsy or spinal cord injuries who cannot walk. The goal is to see if this approach is pra…

This study tests a program called Skills on Wheels that teaches children who use manual wheelchairs how to move around more safely and on their own. The goal is to help kids become more independent, confident, and involved in activities. The study includes children ages 5 to 17 w…

This study looks at whether motivational interviews can improve knowledge about familial hypercholesterolemia (FH), a genetic condition causing very high cholesterol. About 300 people with suspected or confirmed FH will either get usual care or a coaching conversation. The goal i…

This study looks at different ways to give people their genetic test results. Researchers want to see if using a website or chatbot is as good as talking to a genetic counselor by phone or video. About 2,500 adults from a biobank who have certain genetic changes linked to cancer …

This study looks at whether whole genome sequencing (a complete read of a person's DNA) can diagnose genetic diseases in newborns in intensive care more quickly than standard tests. About 400 newborns with suspected genetic conditions will take part. The goal is to see if faster …