Rare disease mystery: scientists track GACI and ARHR2 to unlock clues
NCT ID NCT03478839
First seen Jun 27, 2026 · Last updated Jul 17, 2026 · Updated 2 times
Summary
This completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over time, which could help design 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 this study provides clear data on how these rare diseases progress, it could point toward potential treatments or management strategies.
- What could go wrong
- This is an observational study, not a treatment trial. It only collects existing medical records, so it cannot directly test any therapy or improve outcomes.
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
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.