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

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ClinicalTrials.gov Identifier: NCT03642860
Recruitment Status : Terminated (Problems with recruitment)
First Posted : August 22, 2018
Last Update Posted : August 11, 2021
Ultragenyx Pharmaceutical Inc
Information provided by (Responsible Party):
Mette Cathrine Oerngreen, Rigshospitalet, Denmark

Brief Summary:

The aim of this study is to investigate the effect of 14 days of treatment with the dietary oil-supplement Triheptanoin on fat metabolism and exercise tolerance in patients with Phosphofructokinase deficiency, Debrancher deficiency and Glycogenin-1 deficiency. The investigators wish to investigate whether a Triheptanoin diet can improve exercise capacity by measuring:

  1. Heart rate during cycling exercise and maximal exercise capacity
  2. Fat and glucose metabolism
  3. Concentrations of metabolic substrates in blood during exercise
  4. Perception of fatigue and symptoms by questionnaire
  5. Degree of exhaustion during cycling exercise by Borg score

All measurements are done before and after 14 days with a Triheptanoin-oil diet, and before and after 14 days diet with safflower (Placebo-oil).

Triheptanoin-oil supplementation in the diet has been shown to increase metabolism of both fat and carbohydrates in patients with other metabolic myopathies. In these patients, Triheptanoin improved physical performance and has reduced the amount of symptoms experienced by patients.

Condition or disease Intervention/treatment Phase
Tarui Disease Debrancher Deficiency GYG1 DEFICIENCY Drug: Triheptanoin Drug: Placebo Oil Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 3 participants
Allocation: Randomized
Intervention Model: Crossover Assignment
Intervention Model Description: 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
Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
Primary Purpose: Treatment
Official Title: 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
Actual Study Start Date : August 15, 2018
Actual Primary Completion Date : August 28, 2019
Actual Study Completion Date : August 28, 2019

Arm Intervention/treatment
Experimental: Active treatment
Triheptanoin oil
Drug: Triheptanoin
Daily treatment with Triheptanoin oil for 14 days (7 days titration period in addition to 7 days full dose period with 1g/kg/day).
Other Name: Trioctanoin

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

Primary Outcome Measures :
  1. Heart rate [ Time Frame: 60 min ]
    Heart rate during constant load cycling exercise.

  2. Palmitate oxidation [ Time Frame: 60 min ]
    Palmitate oxidation measured via stable isotope technique and indiret calorimetry during constant load exercise.

Secondary Outcome Measures :
  1. Short Form-36 Questionnaire [ Time Frame: 2 weeks ]
    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.

  2. Maximal workload capacity [ Time Frame: 60 min ]
    During cycle exercise

  3. Plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines, malate, C5, insulin, adrenalin and noradrenalin. [ Time Frame: 60 min ]
  4. Rate of Perceived Exertion (RPE) [ Time Frame: 60 min ]
    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.

  5. Bouchards energy expenditure questionnaire [ Time Frame: 3 days ]
    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.

  6. Glucose rate of appearance and disappearance [ Time Frame: 60 min ]

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Ages Eligible for Study:   15 Years to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Males and females age >15 years
  • Genetically and/or biochemically verified diagnosis of Debrancher deficiency or Phosphofructokinase deficiency or Glycogenin 1 deficiency
  • Capacity to consent
  • All women in fertile age must be on contraceptive treatment with: Birth control pills, coil, ring, transdermal hormone patch injection of synthetic progesterone or subdermal implant.

Exclusion Criteria:

  • Significant cardiac or pulmonary disease
  • Pregnancy (confirmed by urine stick) or breastfeeding.
  • Treatment with beta-blockers
  • Inability to perform cycling exercise
  • Any other significant disorder that may confound the interpretation of the findings.
  • Subjects at risk of musculoskeletal injury, i.e. with disease in joints or muscle.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03642860

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Copenhagen Neuromuscular Center
Copenhagen, Denmark, 2200
Sponsors and Collaborators
Rigshospitalet, Denmark
Ultragenyx Pharmaceutical Inc
Publications of Results:

Other Publications:
Harris, R. & Devlin, T. Textbook of Biochemistry with Clinical Correlations. 1997, (Wiley-Liss).

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Responsible Party: Mette Cathrine Oerngreen, Principal Investigator, Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT03642860    
Other Study ID Numbers: #20171012 Trihep
2017-004153-17 ( EudraCT Number )
First Posted: August 22, 2018    Key Record Dates
Last Update Posted: August 11, 2021
Last Verified: August 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Glycogen Storage Disease Type VII
Glycogen Storage Disease Type III
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases