Triheptanoin in Mc Ardle

• Register: ClinicalTrials.gov
• Last refreshed on: 10 October 2016
• Main ID: NCT02919631
• Date of registration: 28/09/2016
• Prospective Registration: Yes
• Primary sponsor: Institut National de la Santé Et de la Recherche Médicale, France
• Public title: Triheptanoin in Mc Ardle
• Scientific title: The Effect of Triheptanoin in Adults With Mc Ardle Disease (Glycogen Storage Disease Type V)
• Date of first enrolment: October 2016
• Target sample size: 12
• Recruitment status: Not yet recruiting
• URL: https://clinicaltrials.gov/show/NCT02919631
• Study type: Interventional
• Study design: Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Crossover Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
• Phase: Phase 2

Contacts

• Name: Pascal LAFORET, PH

Key inclusion & exclusion criteria

Inclusion Criteria:

- 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

Exclusion Criteria:

- 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

- Person subject to an exclusion period for a previous clinical trial



Age minimum: 18 Years
Age maximum: 65 Years
Gender: Both

Health Condition(s) or Problem(s) studied

Glycogen Storage Disease Type V

Intervention(s)

Drug: Triheptanoin

Drug: Placebo oil

Primary Outcome(s)

Change in heart rate during constant load cycling exercise (HRconst) with Triheptanoin vs. placebo treatment. [Time Frame: Day 14 and Day 28]

Secondary Outcome(s)

Change in urine concentrations of organic acids with Triheptanoin vs. placebo treatment. Urine concentrations of: 3OH-propionate, heptanoate, methylmalonate, pimelate methylcitrate [Time Frame: Day 14 and 28]

Change in self-rated severity of fatigue symptoms with Triheptanoin vs. placebo treatment. [Time Frame: Day 14 and 28]

Change in plasma concentrations of metabolites, citric acid cycle (CAC) intermediates with Triheptanoin vs. placebo treatment. [Time Frame: Day 14 and Day 28]

Change in maximal oxidative capacity (VO2max) with Triheptanoin vs. placebo treatment. [Time Frame: Day 14 and Day 28]

Change in maximal workload capacity (Wmax) with Triheptanoin vs. placebo treatment. [Time Frame: Day 14 and Day 28]

Secondary ID(s)

C15-54'

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Rigshospitalet, Denmark