At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism

Launched by SEQUITUR HEALTH CORP. · Apr 23, 2025

Keywords

ClinConnect Summary

This clinical trial is looking into how well people with certain ammonia metabolism disorders can measure their ammonia levels at home. Specifically, the study wants to find out if participants will check their ammonia levels every day. If you or a loved one has been diagnosed with specific conditions like urea cycle disorders or organic acidemias, you may be eligible to join the trial. Participants must be confirmed to have one of these conditions, be able to read and understand English, and will not be allowed to join if they have other serious health problems that affect ammonia levels.

If you decide to participate, you’ll need to attend three visits at the clinic. Each day, you will measure your temperature, heart rate, and blood oxygen levels, complete a short survey, and check your ammonia levels at home. This trial is not yet recruiting participants, but it’s an important step in understanding how to better manage ammonia-related health issues at home.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Confirmed ammonia disorder such as
• • Ornithine transcarbamylase deficiency
• • Systemic primary carnitine deficiency
• • Type I citrullinemia
• • Argininosuccinic aciduria
• • Isolated methylmalonic acidemia
• • Type II citrullinemia
• • Propionic acidemia
• • Isovaleric acidemia
• • Multiple acyl-CoA dehydrogenase deficiency
• • Pyruvate carboxylase deficiency
• • Argininemia (arginase deficiency)
• • Carbamoyl phosphate synthase I deficiency
• • Dihydrolipoamide dehydrogenase deficiency
• • Lysinuric protein intolerance
• • Hyperornithinemia-hyperammonemia-homocitrullinuria
• • Carnitine-acylcarnitine translocase deficiency
• • Carbonic anhydrase VA deficiency
• • N-acetyl glutamate synthetase deficiency
• • English Literacy
• Exclusion Criteria:
• • Incarcerated
• • Presence of a non-inborn error of metabolism medical condition associated with abnormal ammonia metabolism (e.g., end stage liver disease).
• • Unable to read in English