Syndrome caused by partial chromosomal duplication

This early-phase trial tested the safety of a gene therapy called Engensis (VM202) in 12 adults with Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic nerve disorder that causes muscle weakness. Participants received multiple injections into their leg muscles and were monito…

This study involved 156 people with Charcot-Marie-Tooth disease type 1A (CMT1A), a rare nerve condition that slowly gets worse. Researchers took blood and skin samples over two years to find biological markers that could show how the disease progresses. The goal was to develop mo…

This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

This study looked at how two types of nerve diseases—inherited and acquired—affect walking and balance. Researchers used motion analysis and simple tests like the Timed Up and Go test in 67 participants. The goal was to find clear differences that could help doctors tell the two …

This study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…