Status:

ENROLLING_BY_INVITATION

At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism

Lead Sponsor:

Sequitur Health Corp.

Collaborating Sponsors:

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Oregon Health and Science University

Conditions:

Urea Cycle Disorders

Organic Acidemias

Eligibility:

All Genders

12+ years

Phase:

NA

Brief Summary

The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home. The main question it aims to answer is: • Will partici...

Detailed Description

Ammonium (NH4+, ion in aqueous solution) exists in equilibrium with ammonia (NH3, gas) according to the equilibrium reaction: NH3+ + H+ ↔ NH4+, which has a pKa of 9.25.\[1\] Total ammonia is the sum o...

Eligibility Criteria

Inclusion

  • 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

  • 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

Key Trial Info

Start Date :

September 23 2025

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

August 1 2027

Estimated Enrollment :

30 Patients enrolled

Trial Details

Trial ID

NCT06953505

Start Date

September 23 2025

End Date

August 1 2027

Last Update

October 6 2025

Active Locations (1)

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Oregon Health & Science University

Portland, Oregon, United States, 97239-3098