At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism

NCT06953505 | Enrolling By Invitation DMC FDA Device

• 3 other identifiers: HD1122431R44HD112243STUDY00025898
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Urea Cycle Disorders; Organic Acidemias; Fatty Acid Oxidation Disorder; Ammonia; Metabolic Disorder

Outcome Measures

Primary Outcomes (1)

• Percentage of daily ammonia measurements completed.

  Daily ammonia measurements will be completed on the ammonia study device. A single participant will have a single device. The device will store information about the time, date, and results from the measurements completed. The primary hypothesis is that participants will complete 90% of the daily ammonia measurements during their individual study periods.

  through individual participant study completion - approximately 240 days per participant with an optional 120 day additional extension period available.

Secondary Outcomes (1)

• Descriptive Statistics and Correlations

  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.

Study Arms (1)

Ammonia Device

EXPERIMENTAL

Diagnostic Test: Ammonia Study Device

Interventions

Ammonia Study Device DIAGNOSTIC_TEST

Ammonia study device for capillary ammonia measurement

Ammonia Device

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Sequitur Health Corp.: lead
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator
• Oregon Health and Science University: collaborator

Study Sites (1)

Oregon Health & Science University

Portland, Oregon, 97239-3098, United States

Location

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn; Metabolic Diseases

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases

Study Officials

• Marylaura L Thomas, Ph.D.

  Sequitur Health Corp.

  PRINCIPAL INVESTIGATOR

• Leslie F. Thomas, M.D.

  Sequitur Health Corp.

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DEVICE FEASIBILITY
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 16, 2025
• First Posted: May 1, 2025
• Study Start: September 23, 2025
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): August 1, 2027
• Last Updated: October 6, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: Upon publication in a peer-reviewed publication and in perpetuity once the publication is available.
• Access Criteria: All peer reviewed publications will be published open-access so anyone with an internet connection will be able to access the publication, the data contained within the publication, and any supplementary information to the publication. Secondary outcome individual participant data that may not be included in a publication will be made available after a data sharing agreement is executed between the receiving party and Sequitur Health Corp.. To request secondary outcome data, after the completion of the study, please contact Sequitur Health Corp. at info@sequiturhealth.com or 1-855-445-3889.

Locations

US (1)