Rare inherited metabolic disorders such as glycogen storage diseases (GSD), phenylketonuria (PKU) and fatty acid oxidation disorder (FAOD) Nutritional, Metabolic, Endocrine Glycogen storage disease, Classical phenylketonuria
Conditions
Interventions
Participant recruitment:
The researchers include consultants in inherited metabolic disease who routinely care for the potential participants. Patients' existing clinical care teams wi
Sponsors
Nottingham Trent University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Adult patients (=18 years) with a diagnosis of a rare inherited disorder of metabolism including glycogen storage disease, fatty acid oxidation disorder and phenylketonuria
Exclusion criteria
Exclusion criteria: 1. Individuals who do not have the capacity to consent 2. Pregnancy 3. Individuals with contraindications to exercise testing, as stated by the American College of Cardiology/American Heart Association Guidelines for Exercise Testing included below: 3.1. Acute myocardial infarction (within 2 days) 3.2. High-risk unstable angina 3.3. Uncontrolled cardiac arrhythmias causing symptoms or hemodynamic compromise 3.4. Symptomatic severe aortic stenosis 3.5. Uncontrolled symptomatic heart failure 3.6. Acute pulmonary embolus or pulmonary infarction 3.7. Acute myocarditis or pericarditis 3.8. Acute aortic dissection Relative 3.9. Left main coronary stenosis 3.10. Moderate stenotic valvular heart disease 3.11. Electrolyte abnormalities 3.12. Severe arterial hypertension 3.13. Tachyarrhythmias or bradyarrhythmias 3.14. Hypertrophic cardiomyopathy and other forms of outflow tract obstruction 3.15. Mental or physical impairment leading to inability to exercise adequately 3.16. High-degree atrioventricular block
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Cardio-respiratory fitness and spirometry including gas analysis where VO2 peak and anaerobic threshold (AT) measured using breath by breath gas analysis during an incremental ramp cycle test once per year for 10 years 2. Muscle architecture measured using B-mode ultrasonography once per year for 10 years 3. Muscle strength measured using muscle dynometry once per year for 10 years 4. Muscle activation measured using surface EMG once per year for 10 years | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Pain measured using the visual analogue scale (VAS) four times per year for 10 years, once prior to exercise testing and then at 24, 48 and 72 hours after testing 2. Dietary assessment carried out using a 7-day food diary prior to each testing day once per year for 10 years 3. Quality of life (QoL) measured using a quality-of-life questionnaire (36-Item Short-Form Health Survey questionnaire SF-26) once per year 4. Bone mineral density measured using a DEXA machine once every 3 years for 10 years 5. Physical activity measured using a physical activity monitor (tri-axial GeneActiv Original Accelerometer) over 1 week, once per year and a physical activity questionnaire completed once per year for 10 years | — |
Countries
England, United Kingdom
Outcome results
None listed