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

14 days on Triheptanoin treatment including a 7 days titration period and a 7 days full dose treatment of 1mL/kg/day.

14 days of diet on a placebo oil including 7 days titration period and 7 days full dose treatment of 1mL/kg/day

Glycogen Storage Disease Type V

Placebo oil

Triheptanoin in Mc Ardle

The Effect of Triheptanoin in Adults With Mc Ardle Disease (Glycogen Storage Disease Type V)

Subject heart rate will be measured during 20 minutes exercise test performed on a cycle ergometer at a workload corresponding to approximately 60% of maximal oxidative capacity (VO2max).

The maximal oxidative capacity measured at peak workload after a 6 minutes ramp test performed on a cycle ergometer after 20 minutes constant load cycling.

Total score on a Fatigue Severity Scale (FSS)

The maximal workload capacity (Wmax) is measured at peak workload after a 6 minutes ramp test performed on a cycle ergometer after 20 minutes constant load cycling.

Plasma concentrations of metabolites and citric acid cycle (CAC) intermediates: Lactate, ammonia, glucose, Free Fatty Acids (FFA), acyl-carnitines and malate (a CAC intermediate).

Institut National de la Santé Et de la Recherche Médicale, France

14 days of diet on a placebo oil including 7 days titration period and 7 days full dose treatment of 1mL/kg/day.

Copenhagen Neuromuscular Center, 3342, Rigshospitalet

The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)

Urine concentrations of: 3OH-propionate, heptanoate, methylmalonate, pimelate methylcitrate

contracture/triglyceride

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

Triheptanoin in Mc Ardle

The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)

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