Partial duplication of the short arm of chromosome 17

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…

Researchers at Nantes University Hospital are studying whether nerves feel stiffer in people with three rare peripheral neuropathies: CIDP, CMT1a, and anti-MAG neuropathy. They use ultrasound shear wave elastography to measure nerve stiffness in 36 participants aged 18 to 65 and …

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 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 …