Long-term study of urea cycle disorders in affected families
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism clinical trials.
This study follows people with urea cycle disorders (and some people who are very likely to have one) over time. It aims to better understand how these rare enzyme problems affect health, using medical tests and family information.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have (or are very likely to have) a urea cycle disorder such as NAGS, CPS I, OTC, AS (citrullinemia), AL, ARG (hyperargininemia), or HHH/ORNT
- The diagnosis is supported by specific lab test results (like high ammonia or amino acid levels), and/or a disease-causing gene change
- If not fully confirmed, your recent symptoms and lab results strongly suggest a urea cycle disorder with high ammonia episodes
- Your high ammonia is not explained by other causes like certain metabolic disorders (organic acidemia, fatty acid oxidation defects, mitochondrial problems), lysinuric protein intolerance, or primary liver disease
- You do not have unrelated serious or rare conditions (for example, some genetic syndromes or extreme prematurity) that would make the study unsafe or not useful
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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