Clinical trial NCT06953505: At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism
Official title: Pilot Study of At Home Ammonia Monitoring in Patients With an Inborn Error of Ammonia Metabolism
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Urea Cycle Disorders
Organic Acidemias
Fatty Acid Oxidation Disorder
Ammonia; Metabolic Disorder
Lead sponsor: Sequitur Health Corp.
Sponsor class: INDUSTRY
Collaborators: name: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
name: Oregon Health and Science University
First posted: 2025-05-01
Enrollment: 30
Sex: ALL
Minimum age (years): 12
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Study participants will be recruited from the known population of persons with confirmed ammonia disorders who are followed by a medical genetics doctor.

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 participants measure their ammonia every day?

Participants will be asked to:

* Attend three in-person study visits at the clinic.
* Measure temperature, heart rate, and blood oxygen every day.
* Complete a short survey every day.
* Measure ammonia every day.


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

Primary outcomes:
measure: Percentage of daily ammonia measurements completed.
timeFrame: through individual participant study completion - approximately 240 days per participant with an optional 120 day additional extension period available.
Secondary outcomes:
measure: Descriptive Statistics and Correlations
timeFrame: From enrollment through study completion, this is an average of 240 days per participant. If a participant chooses to participate in the optional study extension then the time frame will be approximately 360 days per participant.
Other outcomes:
Locations:
city: Portland
country: United States
facility: Oregon Health & Science University
state: Oregon
Study officials:
affiliation: Sequitur Health Corp.
name: Marylaura L Thomas, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Sequitur Health Corp.
name: Leslie F. Thomas, M.D.
role: STUDY_DIRECTOR
References: