Specialty: Children, Primary sub-specialty: Inherited Metabolic Disorders
Conditions
Interventions
There are two parts to this research project: Clinic Study and Home Study.
Clinic Study: Once a participant has provided written consent and assent as appropriate, the participant is
this is similar to natural breathing and does not involve a forced exhale in older children. However, in younger children, it may require a larger than normal inhale and exhale, the same as taking a d
Sponsors
University Hospitals Bristol NHS Foundation Trust
Eligibility
Sex/Gender
All
Inclusion criteria
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
Exclusion criteria: Children under five years of age.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinic Study: Breath ammonia is measured using an ammonia breath monitor (AmBeR) at one occasion. Home Study: Breath ammonia is measured using an ammonia breath monitor (AmBeR) daily for a 3 month period. | — |
Secondary
| Measure | Time frame |
|---|---|
| There are no secondary outcome measures. | — |
Countries
England, United Kingdom
Contacts
Public ContactJulian Hamilton-Shield
Outcome results
None listed