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

• Register: ClinicalTrials.gov
• Last refreshed on: 4 March 2024
• Main ID: NCT03642860
• Date of registration: 20/08/2018
• Prospective Registration: No
• Primary sponsor: Rigshospitalet, Denmark
• Public title: The Effect of Triheptanoin on Fatty Acid Oxidation and Exercise Tolerance in Patients With Glycogenoses
• Scientific 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
• Date of first enrolment: August 15, 2018
• Target sample size: 3
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/ct2/show/NCT03642860
• Study type: Interventional
• Study design: Allocation: Randomized. Intervention model: Crossover Assignment. Primary purpose: Treatment. Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor).
• Phase: Phase 2

Countries of recruitment

Denmark

Key inclusion & exclusion criteria

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.



Age minimum: 15 Years
Age maximum: 85 Years
Gender: All

Health Condition(s) or Problem(s) studied

GYG1 DEFICIENCY

Debrancher Deficiency

Tarui Disease

Intervention(s)

Drug: Triheptanoin

Drug: Placebo Oil

Primary Outcome(s)

Palmitate oxidation [Time Frame: 60 min]

Heart rate [Time Frame: 60 min]

Secondary Outcome(s)

Short Form-36 Questionnaire [Time Frame: 2 weeks]

Bouchards energy expenditure questionnaire [Time Frame: 3 days]

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

Maximal workload capacity [Time Frame: 60 min]

Rate of Perceived Exertion (RPE) [Time Frame: 60 min]

Plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines, malate, C5, insulin, adrenalin and noradrenalin. [Time Frame: 60 min]

Secondary ID(s)

2017-004153-17

#20171012 Trihep

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Ultragenyx Pharmaceutical Inc