Cardiorespiratory fitness of patients with glycogen storage diseases
Research type
Research Study
Full title
Exercise (in)tolerance in patients with rare glycogen storage diseases; understanding the pathophysiology, improving assessment and producing normative data.
IRAS ID
195522
Contact name
Philip Hennis
Contact email
Duration of Study in the UK
1 years, 6 months, 30 days
Research summary
There are a number of rare Glycogen Storage Diseases (GSD) that cause profound exercise limitation, reduce physical activity and impair everyday living. 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 a substantial proportion of the UK GSD adult population.
There are several studies that provide reference data for cardio-respiratory fitness variables in healthy populations and some clinical populations. However, at present there are no cardiovascular fitness data available for patients with GSD. Due to this, although these patients are known to have reduced exercise capacity, the degree of exercise limitation and the primary causes of this limitation are currently unknown. Furthermore, if we can establish which of the many types of exercise tests best reflects the symptoms and functional disability of the patient we will be much better placed to test interventions designed to increase exercise tolerance and improve patient care.
As such, this study has several aims:
1) Assess cardio-respiratory fitness and establish normative values: With growing emphasis on the role of exercise as a method of testing, preventing and treating many types of diseases it is important for clinicians to have reference data to help them interpret test results.
2) Identify new methods of assessing physical function: There is reason to think that in addition to ‘standard’ methods of ‘fitness’ assessment that other type of exercise tests which elicit different variables may be of additional benefit.
3) Gain greater understanding of the underlying pathophysiology of the disorders.
4) To assess physical activity levels and muscle size, architecture and strength.REC name
South Central - Berkshire B Research Ethics Committee
REC reference
16/SC/0663
Date of REC Opinion
5 Jan 2017
REC opinion
Further Information Favourable Opinion