Gene hunt for 1,000 patients could unlock lifesaving treatments
NCT ID NCT06376279
First seen May 30, 2026 · Last updated Jun 18, 2026 · Updated 4 times
Summary
This study aims to improve how doctors diagnose rare metabolic diseases using advanced genetic testing. Researchers will analyze the DNA of up to 1,000 people who are suspected of having a metabolic disorder, including those with epilepsy or mitochondrial disease. By finding the exact genetic cause, the goal is to start the right treatment sooner and prevent severe complications.
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.