Diagnosis and care for inherited metabolic conditions
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This trial helps evaluate people who may have an inherited (genetic) metabolic or related disorder, and sometimes includes treatment or guidance based on the diagnosis. It may involve blood and urine testing, and participation can include in-person visits or telehealth.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are 1 month old or older, and your situation is known or suspected to be inherited/genetic (often affecting metabolism).
- If you are older than 2 years, you must be medically stable (safe to travel/assess) for an NIH admission for diagnosis.
- If you are 1 month to 2 years old (or under 12 kg), your case must be reviewed by the pediatric consult team before scheduling.
- You must not be pregnant at the time of enrollment.
- You may be asked to provide blood and urine samples for testing and comparison with family members/controls. (Normal adult volunteers may also provide samples.)
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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