Genetic testing for metabolic diseases
Part of Brain & nervous system, Hormones & metabolism clinical trials.
This trial uses genetic testing to find the cause of suspected metabolic diseases, including some cases of epilepsy. It may help you get a clearer diagnosis and guide treatment.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your relative must be suspected of having a metabolic disease (a problem with how the body breaks down food or makes energy).
- This might include people with epilepsy that could be caused by a metabolic issue.
- You cannot have a disease that is clearly not related to metabolism (like a simple infection or injury).
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 looks for the cause of suspected mitochondrial diseases by combining multiple lab tests on muscle and skin samples, plus genetic testing results. If your current gene tests didn’t find an answer, this could help researchers learn what might be causing your condition.
This trial uses a new, more detailed DNA test (long-read sequencing) to find the cause of severe epilepsy with developmental delays in children when standard genetic testing did not provide an answer. It aims to help families understand the genetic basis of their child's condition.
This study looks for genetic (inherited DNA) causes of epilepsy in children. It may help your family better understand what could be driving seizures, even if the cause isn’t known yet.
This study collects tissue samples to help researchers learn more about mitochondrial disorders—conditions related to how the body makes energy. It may help by improving genetic understanding for families who suspect an inherited cause.
This trial uses detailed brain tests to better match people with epilepsy to the right treatment. It may help by using “precision medicine” methods to understand what in the brain is driving seizures.
This study uses a painless electrical method to record how muscles and nerves work over time. It aims to better understand normal patterns (healthy volunteers) and to learn how these signals change in people with neuromuscular or movement-related conditions.
Hear when a new Metabolic Disease trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.