A closer look at inherited mitochondrial brain disease
Part of Brain & nervous system, Hormones & metabolism clinical trials.
This study collects medical information from people with mitochondrial leukoencephalopathy (a rare genetic disease that damages the brain's white matter) to learn how the disease progresses and how different gene changes affect symptoms. By joining, you can help researchers better understand the condition and improve future care for others.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your loved one must have a confirmed diagnosis of mitochondrial leukoencephalopathy, backed by an MRI showing white matter changes and a gene test showing a relevant disease-causing mutation.
- You need to have medical records available, including details about when symptoms started, how the disease has progressed, and any brain scans or treatment information.
- You must be willing to give permission to use these records (or a parent/guardian can give permission for children or if the person has cognitive impairment).
- If the person with the disease has passed away, a next of kin can give permission to use their medical records.
- There cannot be another genetic disorder that could independently cause similar brain changes or symptoms.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study collects brain-related medical information and biological samples to help researchers better understand leukodystrophies and other white-matter brain disorders. It may help future diagnosis and treatments by building a valuable “biobank” of patient data and samples.
This study follows people with mitochondrial disease over time to learn more about how the condition progresses. It may help researchers find better ways to manage and treat mitochondrial diseases in the future.
This study looks at brain chemicals in people with primary mitochondrial disease using an MRI scan. It aims to understand how the disease affects the brain and may help guide future treatments.
This natural history study follows children and adults with suspected or confirmed mitochondrial myopathy to better understand symptoms and how the condition changes. It may also include healthy participants to compare test results and improve future treatments.
This study looks at how metabolism, infections, and the immune system work together in people with mitochondrial disease. It aims to learn more about the condition and may help guide future treatments.
This study looks at immune system problems in people with mitochondrial diseases. It involves a blood draw to understand how the immune system works in these patients.
Hear when a new Mitochondrial trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.