NIH launches study to unravel mysteries of rare CDG diseases
NCT ID NCT02089789
First seen Jun 24, 2026 · Last updated Jul 09, 2026 · Updated 4 times
Summary
This study from the National Human Genome Research Institute aims to better understand Congenital Disorders of Glycosylation (CDG), a group of rare genetic conditions that affect how the body attaches sugars to proteins and fats. Researchers will examine up to 200 participants, including patients and their family members, using medical history, physical exams, blood and tissue samples, brain imaging, and other tests. The goal is to improve diagnosis and lay the groundwork 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 study could lead to better diagnosis and understanding of CDG, potentially paving the way for future treatments.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly test any therapy, and results may not lead to immediate clinical changes.
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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
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