The Natural History of Mitochondrial Diseases

Launched by NEUROSCIENCE RESEARCH AUSTRALIA · Jul 11, 2024

Keywords

ClinConnect Summary

This clinical trial, titled "The Natural History of Mitochondrial Diseases," is focused on understanding mitochondrial diseases, which are a group of genetic disorders that affect how cells produce energy. The study aims to gather detailed information about these diseases, including their symptoms, how they affect different parts of the body, and how they progress over time. Researchers will follow around 400 participants with confirmed mitochondrial diseases for up to 10 years, collecting data during regular check-ups. They will also include 100 control participants who are either healthy family members, individuals with similar movement disorders like Parkinson's disease, or age-matched healthy volunteers.

To be eligible for the study, participants must be over 18 years old and have a confirmed diagnosis of a mitochondrial disease. Control participants should not show any signs of mitochondrial disease or have a genetic risk for it. Throughout the study, participants can expect to share information about their medical history and undergo various assessments to help researchers gather more insights into these conditions. This research is important as it aims to improve early diagnosis and treatment options for those affected by mitochondrial diseases.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. A clinical and/or genetically confirmed diagnosis of MITO.
• • 2. Individuals \> 18 years of age, managed by a specialist neurologist, with confirmed MITO
• • 3. Control participants will comprise asymptomatic relatives of confirmed MITO patients with no clinical or genetic evidence of MITO; clinically confirmed non-MITO movement disease controls (from other clinics at NeuRA) or age/gender-matched healthy participants.
• Exclusion Criteria:
• • • Those participants who do NOT match the inclusion criteria above
• • Not willing to participate in the AMDC Clinical Registry
• • Not willing to undergo genetic testing
• • Not willing to provide consent