AmBeR UCD: can we measure ammonia in breath sample?

Not Applicable

Completed

• Conditions: Specialty: Children, Primary sub-specialty: Inherited Metabolic Disorders; UKCRC code/ Disease: Metabolic and Endocrine/ Metabolic disorders; Nutritional, Metabolic, Endocrine; Inherited Metabolic Disorders

• Registration Number: ISRCTN98291277
• Lead Sponsor: niversity Hospitals Bristol NHS Foundation Trust

Brief Summary

2019 Funder report results see attached file ISRCTN98291277_Other unpublished result_30Oct19.pdf (added 17/11/2021)

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2017-11-29
• Study Completion: 2019-10-31
• Last Update Posted: 29 November 2021

Recruitment & Eligibility

• Status: Completed
• Sex: All
• Target Recruitment: 94

Inclusion Criteria

Clinic Study: Inclusion criteria for patients with Urea Cycle Disorder and other hyper-ammonaemic conditions
1. Aged = 5 years
2. Diagnosis of a UCD or other hyper-ammonaemic condition
3. Capable of providing a valid breath sample
4. Providing a blood sample as part of their clinical care

Clinic Study: Inclusion criteria for control patients
1. Patients without a UCD or another hyper-ammonaemic condition attending for a routine inborn error of metabolism (IEM) hospital appointment and providing a blood sample as part of their clinical care. An additional 1-2ml whole blood is required for the measurement of blood ammonia.
2. Aged = 5 years
3. Capable of providing a valid breath sample

Home Study: Inclusion criteria (patients with Urea Cycle Disorder or other hyper-ammonaemic conditions)
1. Aged = 5 years
2. Diagnosis of a UCD or other hyper-ammonaemic condition
3. Capable of providing valid breath samples
4. Family willing to help patient collect breath samples and record data

Exclusion Criteria

Children under five years of age.

Study & Design

• Study Type: Observational
• Study Design: Not specified