Massive genetic study aims to unlock secrets of rare metabolic diseases
NCT ID NCT06376279
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing methods. The goal is to better understand these rare diseases and help guide future treatments.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- What this could lead to
- If successful, this could improve how doctors diagnose rare metabolic diseases, leading to earlier treatment and better outcomes for patients.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly test any therapy, and results may take years to impact patient care.
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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.
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