Hereditary inclusion-body myopathy

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 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…

This study followed 44 adults with a confirmed VCP gene mutation to learn how their disease (IBMPFD) naturally progresses over one year. Participants completed walking tests, strength assessments, and surveys about daily function and quality of life. The goal was to gather data t…

This study interviewed 26 adults who either have behavioral variant frontotemporal dementia (bvFTD) or carry a gene that puts them at risk. The goal was to learn how the condition affects daily life, emotions, and coping. No treatment or medication was tested—just listening and g…