The effect of Triheptanoin on excercise in adults and adolescence with glycogenoses

Evaluation of the effect of Triheptanoin on fatty acid oxidation and exercise tolerance in patients with debrancher deficiency, glycogenin-1 deficiency and phosphofructokinase deficiency at rest and during exercise. A randomized, double-blind, placebo-controlled, cross-over study. - Triheptanoin in Glycogenoses

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2017-004153-17-DK

Enrollment

Registered

2018-03-26

Start date

2018-05-03

Completion date

Unknown

Last updated

2020-09-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Cori Forbe's Disease Also called: glycogen storage disease Type III or debrancher deficiency. Tarui's disease Also called: glycogen storage disease Type VII or phosphofructokinase deficiency. Glycogenin-1 deficiency or glycogen storage disease Type XV. MedDRA version: 20.1 Level: PT Classification code 10053241 Term: Glycogen storage disease type VII System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.1 Level: PT Classification code 10053250 Term:

Interventions

Product Name: Triheptanoin Product Code: UX007 Pharmaceutical Form: Oral liquid INN or Proposed INN: Not available CAS Number: 210-647-2 Current Sponsor code: UX0007 Other descriptive name: TRIHEPTANO

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: - Male/Female Age > 15 years - Genetically and/or biochemically verified diagnosis of GSD III, GSD VII or GSD XV - Capacity to consent - For women in fertile age on contraceptive treatment with: Birth control pills, coil, ring, transdermal hormone patch injection of gestagen or subdermal implant. Are the trial subjects under 18? yes Number of subjects for this age range: 4 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 14 F.1.3 Elderly (>=65 years) yes F.1.3.1 Number of subjects for this age range 2

Exclusion criteria

Exclusion criteria: - Significant cardiac or pulmonary disease - Pregnancy (confirmed by urine stix or plasma-HCG) or breastfeeding. - Inability to perform cycling exercise - Any other significant disorder that may confound the interpretation of the findings

Design outcomes

Secondary

Measure	Time frame
Secondary end point(s): • Self-reported health and well-being addressed in an SF-36 Questionnaire. • Maximal workload capacity (Wmax). • Plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines and malate (a TCA intermediate), creatine kinase, and hormones. • Rate of Perceived Exertion during constant workload cycling (RPEconst). • Total fatty acid oxidation and total carbohydrate oxidation measured by indirect calorimetry. • Glucose rate of appearance and disappearance. ;Timepoint(s) of evaluation of this end point: Before and after 14 days of treatment with Triheptanoin and before and after 14 days of placebo treatment.	—

Measure

Time frame

Secondary end point(s): • Self-reported health and well-being addressed in an SF-36 Questionnaire. • Maximal workload capacity (Wmax). • Plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines and malate (a TCA intermediate), creatine kinase, and hormones. • Rate of Perceived Exertion during constant workload cycling (RPEconst). • Total fatty acid oxidation and total carbohydrate oxidation measured by indirect calorimetry. • Glucose rate of appearance and disappearance. ;Timepoint(s) of evaluation of this end point: Before and after 14 days of treatment with Triheptanoin and before and after 14 days of placebo treatment.

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Primary

Measure	Time frame
Main Objective: To investigate the effect of Triheptanoin on fatty acid oxidation and exercise tolerance in patients with debrancher deficiency, glycogenin-1 deficiency and phosphofructokinase deficiency at rest and during exercise. ;Secondary Objective: To investigate the effect of Triheptanoin treatment on: * Self-rated daily function scores on a modified SF-36 questionnaire * Maximal workload capacity (Wmax). * Changes in plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines, malate (a TCA intermediate), C5, and hormones. * Rate of Perceived Exertion (Borg score) during constant workload cycling. * Maximal oxidative capacity. * Bouchards energy expenditure questionnaire. * Glucose rate of appearance and disappearance. ;Primary end point(s): - Heart rate during constant load cycling exercise (HR_const) - Fatty acid oxidation (FAO);Timepoint(s) of evaluation of this end point: Before and after 14 days of treatment with Triheptanoin and before and after 14 days of placebo treatment.	—

Measure

Time frame

Main Objective: To investigate the effect of Triheptanoin on fatty acid oxidation and exercise tolerance in patients with debrancher deficiency, glycogenin-1 deficiency and phosphofructokinase deficiency at rest and during exercise. ;Secondary Objective: To investigate the effect of Triheptanoin treatment on: * Self-rated daily function scores on a modified SF-36 questionnaire * Maximal workload capacity (Wmax). * Changes in plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines, malate (a TCA intermediate), C5, and hormones. * Rate of Perceived Exertion (Borg score) during constant workload cycling. * Maximal oxidative capacity. * Bouchards energy expenditure questionnaire. * Glucose rate of appearance and disappearance. ;Primary end point(s): - Heart rate during constant load cycling exercise (HR_const) - Fatty acid oxidation (FAO);Timepoint(s) of evaluation of this end point: Before and after 14 days of treatment with Triheptanoin and before and after 14 days of placebo treatment.

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Countries

Denmark

Contacts

Public ContactCopenhagen Neuromuscular Center

Rigshospitalet

daniel.emil.tadeusz.raaschou-pedersen.01@region.dk4535456135

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026