Tarui Disease

Debrancher Deficiency

GYG1 DEFICIENCY

Daily treatment with Triheptanoin oil for 14 days (7 days titration period in addition to 7 days full dose period with 1g/kg/day).

Triheptanoin

Daily treatment with Safflower oil for 14 days (7 days titration period in addition to 7 days full dose period with 1g/kg/day).

Placebo Oil

Copenhagen Neuromuscular Center

The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses

Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study

Heart rate during constant load cycling exercise.

Palmitate oxidation measured via stable isotope technique and indiret calorimetry during constant load exercise.

The Short form-36 assesses eight health concepts: limitations in Quality of life physical activities because of health problems; limitations in social activities because of physical or emotional problems; limitations in usual role activities because of physical health problems); bodily pain; general mental health (psychological distress and well-being); limitations in usual role activities because of emotional problems; vitality (energy and fatigue); and general health perceptions. The standard form of the instruments asks for participants to reply to questions according to how they have felt over the previous week. The items use Likert-type scales, from 1-5 points, where 1 usually indicates that the patient is feeling worse.

Borg Score during constant workload cycling. The Borg RPE scale is a numerical scale that ranges from 6 to 20, where 6 means "no exertion at all" and 20 means "maximal exertion. The Borg scale is named after Borg GA 1982.

Bouchard's Physical Activity Record (BAR) is a widely used diary in which participants report physical activity for each 15 minute interval over three days. Activities are rated on a scale of 1 to 9 (1 = sedentary activity, 9 = intense manual work or high intensity sports) to yield a total energy expenditure score.

Mette Cathrine Oerngreen

Principal Investigator

Rigshospitalet, Denmark

Ultragenyx Pharmaceutical Inc

The study will be conducted as a randomized, placebo-controlled, double blind, crossover study consisting of two 14 days treatment periods set apart by minimum a 7-days wash-out period where no treatment is taken. In one treatment period, the subjects receive UX007 treatment and placebo treatment in the other. The study will consist of three separate groups; one group consisting of GSD III, one group of GSD VII, and one group of GSD XV subjects. Each of these groups will be blinded and randomized separately

Patients will be given an individualized diet and exercise plan by a physical therapist and registered dietician. The diet and exercise plan will be carried out by the participant for 16 weeks. The exercise plan, an aerobic and strength training regimen, will be performed under the supervision of a personal trainer or certified exercise physiologist that is local to the participant. The participant will complete core-stabilizing exercises which can be performed at home or in an approved group class. The participant will wear an activity tracker at all times during this 16 week period, and will be asked to manually enter data into a phone app, such as daily food intake and weight.

Pompe Disease

Glycogen Storage Disease Type II

Lysosomal Storage Diseases

Exercise will consist of 2x/week aerobic exercise, 2x/week strength training and 1x/week core-stabilizing exercise.
Diet will be constructed so that 30% of the daily caloric goal will be protein, 35% fat, and 35% carbohydrates.

Diet and Exercise

University of Florida Clinical Research Center

Diet and Exercise in Pompe Disease

A Pilot Study of Diet and Exercise Therapy in Pompe Disease

The PROQOL assesses quality of life and health status to improve patient care

Forced Vital Capacity (FVC) is the amount of air that can be forcefully exhaled after a full inspiration, and is an indicator of overall respiratory function

Quantitative muscle testing (QMT) measures peripheral muscle strength

Patients will be evaluated on their compliance to the diet and exercise plan they are assigned, by comparing activities assigned vs. activities completed

University of Florida

Amicus Therapeutics

Oligofructose (FOS, BioCare Ltd, Birmingham, England) powder will be distributed in sachets of 10 g. Two sachets are to be included in daily nutrition, preferentially 10 g diluted in water at breakfast and before supper.

alpha glucosidase/únava

The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses

Diet and Exercise in Pompe Disease

Idiopathic Reactive Hypoglycaemia and Treatment With Fructo-Oligosaccharide

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