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Study identifier: NCT00369421 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

Diagnosis and Treatment of Patients With Inborn Errors of Metabolism

Condition: Arterial Calcification Due to Deficiency of CD73  ·  Sponsor: National Human Genome Research Institute (NHGRI)

PhaseN/A
Planned participants4000
Who can joinAll sexes, 1 Month to 115 Years
Healthy volunteersYes

About this study

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\>

This description comes directly from the study's public registry record.

Talk to the study team

William A Gahl, M.D.  ·  (301) 402-2739  ·  gahlw@mail.nih.gov

Always discuss trial participation with your own doctor first.

Locations (1)

National Institutes of Health Clinical CenterBethesda, Maryland, United StatesRecruiting

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Source record: clinicaltrials.gov/study/NCT00369421