GENETIC DISEASE

This study tests a custom-made drug (antisense oligonucleotide) designed for one child with TUBB4A-related leukodystrophy, a rare genetic brain disease. The drug aims to slow or control the disease. The child will be followed for 24 months to check safety and effects on movement,…

This study tests an experimental genetic medicine (antisense oligonucleotide) in a single person with TUBB4A-related leukodystrophy, a rare brain disorder that affects movement. The goal is to see if the treatment can improve or stabilize motor function and reduce dystonia (invol…

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. The goal is to see if alerting doctors and families about this risk leads to quicker genetic testing and more …

This study looks at ways to help people with familial hypercholesterolemia (a genetic condition causing very high cholesterol) better understand and manage their condition. About 300 participants will either receive usual care or a motivational interview to see if it improves the…

This study looks at 10,000 people with rare diseases or chromosome changes to understand how DNA rearrangements cause brain disorders. Researchers will map these genetic changes in detail and test their effects in fish and lab-grown cells. The goal is to improve genetic testing a…

This study looks at different ways to share genetic research results with people who joined a biobank. 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 with certain genetic changes will take p…

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 …

This study looks at whether a powered wheelchair that can lift a child to a standing position helps them take part in more activities. It includes children aged 5 to 17 with conditions like cerebral palsy, spinal cord injuries, or genetic disorders who cannot walk. The goal is to…

This study tests a program called Skills on Wheels that teaches children who use manual wheelchairs how to move around safely and independently. The goal is to see if training improves their wheelchair skills, confidence, and social participation. Four children with conditions li…

This study aims to understand why some people with Alpha-1 antitrypsin deficiency, a genetic lung and liver disease, get worse quickly while others stay stable. Researchers will follow 286 patients for three years, using CT scans and blood tests to look for early signs that predi…