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Scientists hunt for missing genetic clues in mystery diseases

NCT ID NCT04399694

First seen Nov 01, 2025 · Last updated Jun 17, 2026 · Updated 34 times

Summary

This study aimed to find new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but whose genetic tests were not clear. Researchers studied 56 patients and their family members to look for hidden variants in parts of the DNA that are often overlooked. The goal was to better understand the genetic roots of these conditions, not to test a new treatment.

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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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Contacts and locations

Locations

  • Duke University

    Durham, North Carolina, 27710, United States

Conditions

The condition(s) this trial relates to.

disorder of glycogen metabolism hereditary disease inborn errors of metabolism lysosomal storage disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.