MITOCHONDRIAL DISEASES

This study is testing a new way to care for people with rare diseases. It brings together specialists, new technologies like genetic testing, and better coordination between hospitals and local services. The goal is to help 136 patients get a faster diagnosis and reduce unnecessa…

This study uses special MRI scans to measure how muscles produce energy in people with mitochondrial disease. Researchers will scan the legs of 230 participants aged 7 to 75 who have suspected or confirmed mitochondrial disease. The goal is to better understand the disease and de…

This study follows children and young adults with rare mitochondrial liver diseases to learn how these conditions progress over time. Researchers collect medical data and samples like blood and tissue to build a biobank for future studies. The goal is to better understand the dis…

This study looks at whether problems with mitochondria—the energy factories in our cells—can harm bone health. Researchers will compare 30 adults with certain mitochondrial gene changes to healthy volunteers. They will measure how bone cells grow, use energy, and build bone struc…