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Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

NCT00369421 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 4000

Last updated 2026-04-14

No results posted yet for this study

Summary

Researchers intend on diagnosing and treating certain inborn errors of metabolism. By doing this researchers hope to expand their knowledge about these disorders and provide access to patients of interest for research, teaching, and clinical experience.

Patients participating in this study will be examined and treated on an out patient basis, if practical. However, patients requiring specialized tests or treatments will be admitted to the NIH Clinical Center as necessary. Researchers will use only accepted medical procedures in diagnosing (medical history, physical examinations, X-ray studies, eye examinations, blood tests, and urine tests) and treating the patients involved in this study. Additional tests may be required on a case to case basis.

Many patients seen in this study will go on to be enrolled in a specific disease-related research study.\<TAB\>

Conditions

  • Arterial Calcification Due to Deficiency of CD73

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • William A Gahl, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Month
Max Age
115 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
1978-09-12

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00369421 on ClinicalTrials.gov