NIH launches major study to unravel mysteries of rare genetic diseases
NCT ID NCT00001215
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Researchers will evaluate up to 1,000 participants, including patients, carriers, and healthy controls, to better understand these conditions and pave the way for new therapies. Participants will be re-evaluated annually.
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 help identify factors that predict disease severity and guide the development of new treatments for lysosomal storage disorders.
What could go wrong
This is an observational study, not a treatment trial. It may not directly lead to new therapies, and results may take years to translate into clinical practice.
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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Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States