X-linked disease

This study aimed to see if a new medicine (efanesoctocog alfa) helps people with moderate or severe hemophilia A reach their personal goals and be more physically active. It planned to enroll 35 people aged 12 to 50, but was stopped early after only 3 joined. The medicine is used…

This early-stage trial tested a gene therapy called SBT101 for adrenomyeloneuropathy (AMN), a rare nerve disease that causes walking difficulties. Eight adults received either the therapy or a sham procedure. The study was terminated early, so we have limited data on safety and e…

This study looked at how patients with hemophilia A or those on blood thinners feel about monitoring their blood clotting at home. Researchers interviewed 19 people to understand their needs and hopes for a new device that could measure clotting factors. The goal was to gather in…

This study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…

This study followed 65 adult men with a rare inherited nerve disease called AMN (a form of spastic paraplegia) to understand how their symptoms change over time. Researchers collected data on walking ability and quality of life. The goal was to fill gaps in knowledge about the di…