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NIH launches major study to unravel genetic metabolic mysteries

NCT ID NCT00369421

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

First seen Nov 01, 2025 · Last updated Jun 18, 2026 · Updated 31 times

Summary

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expand knowledge and provide access to cutting-edge research for patients of all ages with known or suspected genetic conditions.

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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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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

The condition(s) this trial relates to.

hereditary arterial and articular multiple calcification syndrome hereditary disease inborn errors of metabolism inherited disease susceptibility Rare Diseases

As listed by the trial registrant

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

ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73