Spinal Muscular Atrophy

Merosin Deficient Congenital Muscular Dystrophy

Fasting for 24 hours or until hypoglycemia (blood glucose < 3mmol/L) or symptoms of hypoglycemia

Fasting

Copenhagen Neuromuscular Center

Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass

Fedt og Sukkerstofskiftet Under Faste Hos Patienter Med Lav Muskelmasse.

Using indirect calorimetri and stable isotope technique: of [U-13C]-palmitate (0.0026 mg kg-1 min-1, primed by a 0.085 mg kg-1 NaH13CO3 bolus) fat metabolism was measured at fed state and during 24 hours of fasting

Using indirect calorimetri and stable isotope technique: of [D2]-glucose (0.0728 mg kg-1 min-1, primed by a 3.203 mg kg-1 D2- glucose bolus) glucose metabolism was measured at fed state and during 24 hours of fasting

Hormones and metabolites were measured at fed state and during 24 hours of fasting

Glucagon was measured at fed state and during 24 hours of fasting

Epinephrine was measured at fed state and during 24 hours of fasting

Norepinephrine was measured at fed state and during 24 hours of fasting

Palmitate was measured at fed state and during 24 hours of fasting

FFA was measured at fed state and during 24 hours of fasting

Glycerol was measured at fed state and during 24 hours of fasting

Glucose was measured at fed state and during 24 hours of fasting

Pyruvate was measured at fed state and during 24 hours of fasting

β-hydroxybuturatewas measured at fed state and during 24 hours of fasting

Acetoacetate was measured at fed state and during 24 hours of fasting

Mette Cathrine Oerngreen

Rigshospitalet, Denmark

Patients with mitochondrial disease, investigated by blood samples and exercise test.

Patients with metabolic myopathy, investigated by blood samples and exercise test.

Patients with muscular dystrophy, investigated by blood samples and exercise test.

Healthy controls, investigated by blood samples and exercise test.

Mitochondrial Disease

Metabolic Myopathy

Muscular Dystrophy

Rigshospitalet

GDF-15 as a Biomarker for Mitochondrial Disease

The blood sample will be analysed with a Luminex analyser to determine the concentration of GDF-15.

The subjects perform an incremental exercise test until exhaustion on a cycle ergometer. The concentration of GDF-15 is measured afterwards with a Luminex analyser.

Lactate is a muscle marker, that is measured in this study.

Pyruvate is a muscle marker, that is measured in this study.

Creatin kinase is a muscle marker, that is measured in this study.

FGF-21 (Fibroblast Growth Factor 21) is a muscle marker that is measured in this study.

During the exercise test, the subjects will breath through a mask, that is connected to a machine. The machine is able to calculate the VO2max.

The Wmax will be calculated during the exercise test.

Nanna Scharff Nielsen

Student researcher

Kidney Disease

N-acetyl-mannosamine (ManNAc)

National Institutes of Health Clinical Center, 9000 Rockville Pike

A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases

Safety by self-reported symptoms and by standardlaboratory testing. The effects of reduced eGFR will beassessed. The effect of ManNAc therapy on proteinuria, from the baseline to the end of the extension phase, will be examined on a research basis.

Subjects are recruited and grouped by eGFR and ManNAc dose. The effects of reduced eGFR on these parameters will be assessed.

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Patients consume a drink after each exercise session. The drink consist of whey protein, maltodextrin, and flavors mixed in water.

Patients consume a drink after each exercise session. The drink consist of flavors mixed in water.

Patients will be tested before and after a none-intervention period of 12 weeks.

Facioscapulohumeral Muscle Dystrophy

Duration: 3 session each week, in 12 week. Intensity: 70 % of VO2max. Type: cycle-ergometer exercise.

Regular exercise

Dosage: 45g powder mixed in 0.5 L water After each exercise session, 3 times each week, in 12 weeks.

Protein-carbohydrate supplementation

Neuromuscular Research Unit, Department of Neurology, Rigshospitalet

Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study

The Effect of Protein Supplementation Doing Regular Exercise in Patients With Facioscapulohumeral Muscular Dystrophy - a Blinded RCT Study

All participant are tested with a standardized maximal oxygen consumption test. Maximal oxygen uptake pr. minute pr. kg body (VO2max) weight and maximal work load (Wmax) is measured. The effect of intervention is found in different between groups in relative and absolute improvement in VO2max and Wmax.

Measuring of: Muscle strength, balance, 5-times-up-and-down-chair-test, 14-steps-stair-test.

assessment of daily-activity level by accelerometer daily-activity level questionary SP36 life quality questionary

muscular dystrophies/carbohydrate

Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass

GDF-15 as a Biomarker for Mitochondrial Disease

A Phase 1 Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of ManNAc in Subjects With Primary Podocyte Diseases

Protein Supplementation and Exercise in Patients With FSH Muscular Dystrophy- a Randomized Placebo Controlled Study

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