Genetic clues unlock hidden metabolic diseases in thousands
NCT ID NCT06376279
First seen May 30, 2026 · Last updated Jun 12, 2026 · Updated 2 times
Summary
This study aims to improve diagnosis of rare inherited metabolic diseases by using advanced genetic testing in up to 1,000 people suspected of having such conditions. Researchers at Karolinska University Hospital will analyze DNA and other biological data to find disease-causing genetic variants. The goal is to enable earlier treatment and better outcomes for patients with these serious disorders.
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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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