Triheptanoin in Mc Ardle

NCT02919631 | Completed Phase 2

• 1 other identifier: C15-54
• Study Type: interventional
• Target: 12
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Patients with the sugar metabolism disorder, Glycogen Storage Disease Type V, have insufficient breakdown of sugar stored as, glycogen, within the cells. The investigators know from previous studies with McArdle patients, that they not only have a reduced sugar metabolism, both also have problems in increasing their fat metabolism during exercise to fully compensate for the energy deficiency. Studies on Triheptanoin diet used in patients with other metabolic diseases have shown that Triheptanoin can increase metabolism of both fat and sugar. In these patients, Triheptanoin has had a positive effect on the physical performance and has reduces the level of symptoms experienced by patients. Aim: To investigate the effect of treatment with the dietary oil, Triheptanoin, in patients with McArdle disease on exercise capacity. Methods: 20-30 adult patients will be recruited through Rigshospitalet in Copenhagen, Denmark and Hopital Pitié-Sapêtrière in Paris, France.

1. 1.Pre-experimental testing (1 day): Baseline blood samples are collected to obtain baseline values of safety parameters: Plasma-acylcarnitines, free fatty acids and creatine kinase. Subjects perform a max-test to determine their VO2max
2. 2.Treatment period #1 (2 weeks): Subjects follow a diet consuming a dietary treatment oil. Neither patients nor members of the study group know who receive which type of oil.
3. 3.Washout period (1 week +7 days): Subjects receive no treatment
4. 4.Treatment period #2 (2 weeks +7days): Subjects who received Triheptanoin oil in the first treatment period, now receive placebo oil and vice versa.

Conditions

Glycogen Storage Disease Type V

Outcome Measures

Primary Outcomes (1)

• Change in heart rate during constant load cycling exercise (HRconst) with Triheptanoin vs. placebo treatment.

  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).

  Day 14 and Day 28

Secondary Outcomes (5)

• Change in maximal oxidative capacity (VO2max) with Triheptanoin vs. placebo treatment.

  Day 14 and Day 28

• Change in self-rated severity of fatigue symptoms with Triheptanoin vs. placebo treatment.

  Day 14 and 28

• Change in urine concentrations of organic acids with Triheptanoin vs. placebo treatment. Urine concentrations of: 3OH-propionate, heptanoate, methylmalonate, pimelate methylcitrate

  Day 14 and 28

• Change in maximal workload capacity (Wmax) with Triheptanoin vs. placebo treatment.

  Day 14 and Day 28

• Change in plasma concentrations of metabolites, citric acid cycle (CAC) intermediates with Triheptanoin vs. placebo treatment.

  Day 14 and Day 28

Study Arms (2)

triheptanoin

ACTIVE COMPARATOR

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

Drug: Triheptanoin

placebo oil

PLACEBO COMPARATOR

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

Drug: Placebo oil

Interventions

Triheptanoin DRUG

Anaplerotic dietary oil

Also known as: UX007

triheptanoin

Placebo oil DRUG

Safflower oil

Also known as: UX007 Placebo Oral Liquid

placebo oil

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or female between 18 and 65 years of age,
• Genetically and/or biochemically verified diagnosis of McArdle disease
• Body Mass Index of 18-32
• Women in child-bearing age on contraceptive treatment with: Birth control pills, coil, ring, transdermal hormone patch injection of gestagen or subdermal implant.
• French national health insurance
• Signed informed consent
• Available for phone calls

You may not qualify if:

• Minor
• Significant cardiac or pulmonary disease
• Pregnancy (confirmed by urinary-HCG) or breastfeeding. Pregnancy not planned and to be avoided during the study by use of effective contraceptive methods.
• Persons deprived of their liberty by judicial or administrative decision
• Adult subject under legal protection or unable to consent
• Treatment with beta-blockers
• Inability to perform cycling exercise
• Any other significant disorder that may confound the interpretation of the findings

Sponsors & Collaborators

• Rigshospitalet, Denmark: collaborator
• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

Pitié-Salpêtrière,centre de référence de pathologie neuromusculaire, 47 Bd de l'hôpital

Paris, 75651, France

Location

Related Publications (1)

• Madsen KL, Laforet P, Buch AE, Stemmerik MG, Ottolenghi C, Hatem SN, Raaschou-Pedersen DT, Poulsen NS, Atencio M, Luton MP, Ceccaldi A, Haller RG, Quinlivan R, Mochel F, Vissing J. No effect of triheptanoin on exercise performance in McArdle disease. Ann Clin Transl Neurol. 2019 Oct;6(10):1949-1960. doi: 10.1002/acn3.50863. Epub 2019 Sep 14.

  PMID: 31520525 BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease Type V

Interventions

triheptanoin

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 28, 2016
• First Posted: September 29, 2016
• Study Start: November 16, 2016
• Primary Completion: June 26, 2017
• Study Completion: June 26, 2017
• Last Updated: September 4, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)