The Natural History of Mitochondrial Diseases A 10-Year Observational Study with Biobank Collection

What this Trial Is About

Researchers are conducting a long-term observational study to better understand mitochondrial diseases (MITO), which are serious inherited conditions affecting multiple body systems and requiring ongoing monitoring. This study aims to describe MITO disease progression, organ involvement, severity, and collect biological samples to create a biobank for future biomarker research. Both MITO patients and control participants, including healthy individuals and those with non-MITO neurological disorders, will be followed over 10 years to improve diagnosis and management methods. The study involves 400 MITO patients with confirmed genetic variants or clinical diagnosis, alongside 100 controls who are either asymptomatic relatives without genetic risk, people with non-MITO movement disorders, or age- and gender-matched healthy volunteers. Participants will be observed in a non-randomized, retrospective and prospective manner, with data collected during routine care visits every 6 to 12 months. Biological samples will be stored in a biobank for future ethically approved research. Participants will provide detailed medical, social, and clinical data including seizure and migraine frequency, neurological assessments, and quality of life questionnaires. Standard tests such as blood tests, imaging, cardiac and gastrointestinal studies, and biopsies will be recorded. The primary outcome is to describe the natural history of MITO over 10 years. The study also monitors factors influencing disease progression and will help guide future diagnosis, treatment research, and patient care.

The Natural History of Mitochondrial Diseases