Gene hunt in children could unlock secrets of rare metabolic diseases
NCT ID NCT02650622
First seen Jul 02, 2026 · Last updated Jul 02, 2026
Summary
This study looks at children with suspected or confirmed genetic and metabolic disorders to find new disease-causing gene mutations. Researchers will analyze blood samples for DNA and metabolites, and in some cases take a small skin sample. The goal is to better understand these rare conditions and pave the way for 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 research could identify new genetic mutations behind rare metabolic disorders, potentially pointing toward future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly lead to therapies, and findings may not apply to all patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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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.
Contacts and locations
Locations
-
Children's Medical Center at Dallas
RECRUITINGDallas, Texas, 75390, United States
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