Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy

Summary

This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.

Conditions

• Metabolism, Inborn Errors
• Lipid Metabolism, Inborn Errors
• Carbohydrate Metabolism, Inborn Errors
• Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
• Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV)
• Carnitine Palmitoyl Transferase 2 Deficiency
• VLCAD Deficiency
• Medium-chain Acyl-CoA Dehydrogenase Deficiency
• Multiple Acyl-CoA Dehydrogenase Deficiency
• Carnitine Transporter Deficiency
• Neutral Lipid Storage Disease
• Glycogen Storage Disease Type II
• Glycogen Storage Disease Type III
• Glycogen Storage Disease Type IV
• Glycogen Storage Disease Type V
• Muscle Phosphofructokinase Deficiency
• Phosphoglucomutase 1 Deficiency
• Phosphoglycerate Mutase Deficiency
• Phosphoglycerate Kinase Deficiency
• Phosphorylase Kinase Deficiency
• Beta Enolase Deficiency
• Lactate Dehydrogenase Deficiency
• Glycogen Synthase Deficiency

Interventions

OTHER

Sugar

10 minutes before exercising, the subjects are given a bolus of glucose solution 0.2 g/kg in a cubital vein catheter and a constant infusion of 10% glucose solution is started (100ml/h). The infusion continues throughout the exercise period.

Sponsors & Collaborators

• Rigshospitalet, Denmark

  lead OTHER

Principal Investigators

• Karen L Madsen, MD · Neuromuscular Research Unit

Study Design

Allocation

NA

Purpose

BASIC_SCIENCE

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

15 Years

Max Age

80 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2016-01-31

Primary Completion

2020-08-31

Completion

2020-12-31

Countries

• Denmark

Study Locations