Cori Disease glycogen storage disease type IIIa
Conditions
Interventions
oral intake of nutritional drinks
moderate-intensity exercise on bicycle
ergometer
in vivo Magnetic Resonance Spectroscopy
muscle ultrasound
(optional) muscle microbiopsy
venipuncture.
exercise
glycogen storage disease type IIIa
ketone esters
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: -GSD III confirmed with enzyme assay and/or AGL mutation analysis and GSD IIIa further specified as deficient debranching enzyme activity in muscle or clinical and/or biochemical signs of cardiac and/or skeletal muscular involvement. -age 18-65
Exclusion criteria
Exclusion criteria: -contraindications for MRI studies (assessed by standardised questionnaire as previously used in METC 08-267/K; see UMCG section F METC documents) -inability to perform bicycle exercise. -intercurrent illness which may influence exercise tolerance (anemia, musculoskeletal injury, or other undiagnosed illness under investigation). -known coronary artery disease, positive history for angina or cardiomyopathy. -insulin-dependent diabetes mellitus. -loss of, or an inability to give informed consent. -pregnancy or current breastfeeding. -any other cause which in the opinion of the investigators, may affect the participant's ability to participate in the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - physical performance during bicycle exercise bout 1 - VO2, VCO2 dynamics during bicycling exercise bout 1. - steady-state in vivo intramuscular levels of glycogen, Pi, PCr, and pH during exercise bout 2 versus rest. - kinetic rate constants of metabolic recovery post-exercise bout 2 | — |
Secondary
| Measure | Time frame |
|---|---|
| - time of individual desired workload upright bicycling bout (#minutes) - completion of 10 min supine bicycling bout at desired workload in scanner (yes/no; if no, #minutes) - subjective fatigue and muscle ache score after each exercise bout (scale 0-10) and 24 hours after exercise - International Physical Activity Questionnaire - Muscle ultrasound density of the biceps, quadriceps, calf (gastrocnemius and/or soleus) and tibialis anterior muscles. - Muscle force unilateral (left) with a hand-held dynamometer (Type CT 3001, C.I.T. Technics, Groningen, The Netherlands). - Blood levels of glucose, *-hydroxybutyrate, acetoacetate, free fatty acids, insulin, creatine kinase, ammonia, lactate, NT-proBNP and pH prior to and post-exercise. - Urine levels of myoglobin, ketones, tetraglucoside - Structural muscle parameters: fat infiltration. - optional: muscle metabolic profile (according to Cox et. al. 2016 [9]) prior to and immediately post-exercise (on a patient-voluntary basis). - optional: individual phenotypic muscle properties (fiber type, mitochondrial density, capillary density prior to and immediately post-exercise (on a patient-voluntary basis). | — |
Countries
Faroe Islands, Netherlands
Outcome results
None listed