About the Project
This program of study will investigate exercise (in)tolerance in patients with rare inherited metabolic disorders. We believe that learning more about limits of tolerance to exercise in these cohorts will allow the development of lifestyle and/or dietary interventions designed to improve their physical function and quality of life.
Aims and objectives
There are a number of rare metabolic disorders that cause profound exercise limitation, reduce physical activity and impair everyday living. The aim of the current project is to study three types of these disorders that can be broadly categorised as Glycogen Storage Diseases (GSD) and Fatty Acid Oxidation Disorders (FAOD), and Creatine Deficiency (secondary to eg. ornithine aminotransferase deficiency). Our collaborator on the project, The Charles Dent Metabolic Unit at the National Hospital for Neurology and Neurosurgery, is one of the largest services in the world for the treatment of inherited metabolic diseases, managing over 1400 adult patients with rare inherited disorders of metabolism.
At present, normative cardiovascular fitness data for patients with GSD, FAOD, or creatine deficiency are either not available or limited to studies with small sample sizes. Due to this, although these patients have reduced exercise capacity, the degree of exercise limitation and the primary causes of this limitation are largely unknown. Furthermore, despite studies independently reporting reduced exercise tolerance, physical activity levels and quality of life (QoL) the relationships between these factors are unstudied in these cohorts. Understanding more about these complex relationships would inform intervention studies designed to alter lifestyle (physical activity, diet, exercise) to improve fitness and QoL.
As such, this programme of PhD studies has several aims:
1. Assess cardio-respiratory fitness and establish normative values in patients with rare inherited metabolic diseases
2. Examine the cardiovascular, metabolic and neuromuscular determinants of impaired exercise tolerance.
3. To measure QoL in adult patients with rare inherited metabolic diseases, and investigate its link with physiological impairments such as poor cardiovascular fitness, muscle size and strength, activities of daily living, and physical activity.
4. To test the feasibility, safety, and effectiveness of a formal exercise training program, physical activity alterations or dietary change (subject to results from previous studies) on markers of cardiovascular fitness, muscle strength and size, physical activity, activities of daily living, and QoL in patients
The supervisory team for this project will be Dr Christopher Morse, Dr David Tomlinson, and Dr Philip Hennis
The closing date for applications is 31st January 2017.
To apply, please use the form on our web page: http://www2.mmu.ac.uk/study/postgraduate/apply/postgraduate-research-course/ - please note, CVs alone will not be accepted.
For informal enquiries, please contact: [Email Address Removed]
Please quote the Project Reference in all correspondence.
Funding Notes
This scholarship is open to UK, EU and International students
For information on Applicant Requirements please visit: http://www2.mmu.ac.uk/research/research-study/scholarships/detail/vc-heal-pjh-2017-1-exercise-intolerance-in-patients.php
References
Melis, D. et al. (2016)Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis. Bone, 86: 79 – 85.
Momoi, T. et al. (1992) Glycogen Storage Disease Type III With Muscle Involvement: Reappraisal of Phenotypic Variability and Prognosis. American Journal of Medical Genetics 42: 696-699.
Preisler, N. et al. (2013) Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency? Molecular Genetics and Metabolism 109: 14–20.
Sechi, A. et al. (2014). Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. JIMD Reports, 14: 47–53.
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