Disorder of multiple glycosylation

This study is building an international registry of people with GNE myopathy, an ultra-rare muscle disease that causes progressive weakness and often leads to wheelchair use. Participants will complete online questionnaires about their symptoms, medical history, quality of life, …

This completed study followed 945 people, mostly children and young adults with severe eczema or related allergic conditions, along with their relatives. Researchers observed how these diseases progress over up to a year, using tests like allergy skin pricks, blood draws, and lun…

This study followed 78 people with GNE myopathy, a rare genetic disease that causes progressive muscle weakness starting in young adulthood. Researchers collected medical history, blood samples, and muscle function tests over up to two years to understand how the disease progress…