Acute Nutritional Ketosis and Exercise in Glycogen Storage Disease type IIIa.

Completed

• Conditions: Cori Disease; glycogen storage disease type IIIa; 10027424; 10021605

• Registration Number: NL-OMON43152
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 28 February 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 3

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

-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

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- physical performance during bicycle exercise bout 1<br /><br>- VO2, VCO2 dynamics during bicycling exercise bout 1.<br /><br>- steady-state in vivo intramuscular levels of glycogen, Pi, PCr, and pH during<br /><br>exercise bout 2 versus rest.<br /><br>- kinetic rate constants of metabolic recovery post-exercise bout 2</p><br>