Actively Recruiting
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-14
4000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants 1 month or older with a known or suspected inborn error of metabolism, heritable disorder, or genetic predisposition
- Participants over two years old must be medically stable and require admission for diagnosis
- Children 1 month to 2 years or under 12 kg must be reviewed and approved by Pediatric Consult Service
- Some participants may be relatives of patients for testing or control purposes
- Normal adult volunteers aged 18 years or older may provide control blood and urine specimens
- Participants may be seen as inpatients, outpatients, or via telehealth at the principal investigator's discretion
You will not qualify if you...
- Participants under 1 month of age will not be seen at the NIH Clinical Center
- Participants over 2 years old who are medically unstable and do not require admission are excluded
- Pregnant women are excluded
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
W
William A Gahl, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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