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Dr Philip Hennis
+44 (0)7554436234
philip.hennis@ntu.ac.uk


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Be Part of Research - Trial Details - Longitudinal physiological changes in inherited metabolic disorders
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Longitudinal physiological changes in inherited metabolic disorders

Recruiting

Open to: All Genders

Age: Adult

Nottingham London

Medical Conditions

Rare inherited metabolic disorders such as glycogen storage diseases (GSD), phenylketonuria (PKU) and fatty acid oxidation disorder (FAOD)

This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.


Rare inherited disorders of metabolism (IMD) such as glycogen storage diseases (GSD) and fatty acid oxidation disorders (FAOD) often result in high levels of fatigue and a reduced ability to exercise. In many types, this can progress throughout adult life. Despite wide awareness of this decline over time, very little long-term data is available. Other inherited metabolic disorders such as phenylketonuria (PKU) also require further study, particularly to investigate the impact of lifelong dietary restriction.
Long term studies such as this will increase our understanding of these rare disorders and as such the aims of this study are to:
1. Establish changes in heart, lung function and skeletal muscle characteristics over time in people with rare IMD
2. Gain a greater understanding of the underlying mechanisms of the diseases
3. Identify the impact of physical decline on health and wellbeing
4. Establish risk factors for high rates of physical decline
This will increase our understanding of rare IMD and may provide valuable information for interventions aimed at improving the quality of life of those with these disorders.

Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.  

The recruitment start and end dates are as follows:

01 May 2022 01 Jul 2032

Participants will be required for testing for 1 day (about 6 hours) per year for 10 years. On arrival participants will have their height, weight, body composition and other basic information taken. They will also need to spend 20 minutes filling out questionnaires to assess activity levels, quality of life and the amount of pain they are experiencing. They will be asked if any particular type of exercise causes them difficulty. In addition, their current dietary treatment plan will be recorded, and they will complete a 7-day food diary before the visit for dietary assessment.
They will then complete the following assessments. The incremental ramp cycle test will involve pedalling on a stationary exercise bicycle for about15 minutes to assess the maximum amount of oxygen they use during exercise. The workload will start very low and increase progressively until they reach the point at which they can no longer continue. A device will analyse their breathing via a mask worn throughout the test and heart rate, blood pressure and oxygen saturation will also be monitored. The last 3-5 minutes of exercise will be at a high exercise intensity and the test stops when participants decide they cannot exercise any longer.
A muscle dynamometer will be used to assess the strength of the leg muscles. This will take place at least 2 hours after the incremental ramp cycle test. It requires participants to push their legs against a set resistance to assess how strong they are. The test will consist of one warm-up contraction which will last for 2-3 seconds at an intensity of less than 20% of maximum effort. Following this, they will be asked to complete two maximal contractions lasting no longer than 3 seconds each. In total, they will be asked to complete three contractions and will have at least 5-10 minutes rest between each contraction.
Activation of the leg muscles will be measured via surface electromyography (sEMG). This is a safe and non-invasive measurement which includes sensors being placed on the skin's surface in order to measure electrical activity from the muscles during exercise.
The size and makeup of participants' leg muscles will be measured using ultrasound, which is a safe and non-invasive method that uses sound waves to produce pictures of muscles, tendons, ligaments and joints throughout the body.
At the end of the day, participants will be fitted with an activity monitor, which just requires them to wear an activity monitor on their thigh for one week. This is usually only a mild inconvenience as it is waterproof and can be worn in the shower and it can be worn at night. Once the week is complete, participants will be provided with a prepaid envelope for them to post it back.
Health-related quality of life and pain will be assessed via questionnaires.
Bone mineral density will be measured via a DEXA scan every 3-5 years. This involves lying flat for 10 minutes and being scanned using a fine x-ray beam. This is safe as the amount of radiation received is very small (less than most x-ray scans).
Participants will be contacted each day following the tests until they report being fine and having a muscle pain score the same as before testing. On 1, 3 and 7 days following testing, the researchers will establish if they have had any adverse reactions to the testing such as muscle pain, fatigue and any hospital admissions.


Rare inherited disorders of metabolism (IMD) such as glycogen storage diseases (GSD) and fatty acid oxidation disorders (FAOD) often result in high levels of fatigue and a reduced ability to exercise. In many types, this can progress throughout adult life. Despite wide awareness of this decline over time, very little long-term data is available. Other inherited metabolic disorders such as phenylketonuria (PKU) also require further study, particularly to investigate the impact of lifelong dietary restriction.
Long term studies such as this will increase our understanding of these rare disorders and as such the aims of this study are to:
1. Establish changes in heart, lung function and skeletal muscle characteristics over time in people with rare IMD
2. Gain a greater understanding of the underlying mechanisms of the diseases
3. Identify the impact of physical decline on health and wellbeing
4. Establish risk factors for high rates of physical decline
This will increase our understanding of rare IMD and may provide valuable information for interventions aimed at improving the quality of life of those with these disorders.

Who can participate?
Patients aged 18 years and over with various rare inherited metabolic disorders and age- and sex-matched healthy volunteers

You can take part if:



You may not be able to take part if:


1. Individuals who do not have the capacity to consent2. Pregnancy3. 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 angina3.3. Uncontrolled cardiac arrhythmias causing symptoms or hemodynamic compromise3.4. Symptomatic severe aortic stenosis3.5. Uncontrolled symptomatic heart failure3.6. Acute pulmonary embolus or pulmonary infarction3.7. Acute myocarditis or pericarditis3.8. Acute aortic dissection Relative3.9. Left main coronary stenosis3.10. Moderate stenotic valvular heart disease3.11. Electrolyte abnormalities3.12. Severe arterial hypertension3.13. Tachyarrhythmias or bradyarrhythmias3.14. Hypertrophic cardiomyopathy and other forms of outflow tract obstruction3.15. Mental or physical impairment leading to inability to exercise adequately3.16. High-degree atrioventricular block


Below are the locations for where you can take part in the trial. Please note that not all sites may be open.

  • Nottingham Trent University
    School of Science and Technology Clifton Campus
    Nottingham
    NG11 8NS
  • National Hospital for Neurology and Neurosurgery
    Charles Dent Metabolic Unit Queen Square
    London
    WC1N 3BG

The major benefit of participating in this study is the opportunity for participants to be part of a unique scientific research project that will hopefully lead to a greater understanding of IMD and how these can be managed. Potential issues related to exercising with metabolic disorders include fatigue, muscle pain (in one or more muscles), muscle cramping and swelling. If participants experience any of these symptoms the test will then be stopped and they will be reviewed by the medical doctor.

Dr Philip Hennis
+44 (0)7554436234
philip.hennis@ntu.ac.uk



The study is sponsored by Nottingham Trent University and funded by Nottingham Trent University.



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Read full details for Trial ID: ISRCTN12192375
Last updated 18 May 2022

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