Scientists launch deep dive into rare genetic disease
NCT ID NCT00005917
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that causes light skin and hair, easy bruising, and frequent infections. Researchers will observe up to 60 patients over time, collecting clinical and genetic data to better understand the disease and its variations. 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 a better understanding of Chediak-Higashi syndrome and its variants, potentially pointing toward new treatments or improved diagnosis.
What could go wrong
This is an observational study, not a treatment trial. It is small (60 participants) and focuses on gathering information, so it will not directly provide a cure or therapy.
Disclaimer
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This is a summary of
the original study
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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.
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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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