NIH launches major study to unravel mysteries of rare genetic diseases

NCT ID NCT00001215

ENROLLING_BY_INVITATION Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jul 31, 2026 · Updated 2 times

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.

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.

Gaucher disease lysosomal storage disease Parkinson disease

As listed by the trial registrant

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

GAUCHER DISEASE LYSOSOMAL STORAGE DISORDERS PARKINSON DISEASE

Contacts and locations

Locations

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

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