E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
McArdle Disease Also called: Glycogen Storage Disease Type V or Myophosphorylase Deficiency |
McArdle Sygdom |
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E.1.1.1 | Medical condition in easily understood language |
Inborn genetic defect in the Myophosphorylase gene in the muscle cells causing deficient glycogen metabolism |
Medfødt defekt i Myofosforylase-genet, hvilket medfører nedsat glykogenforbrænding i muskelcellerne |
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E.1.1.2 | Therapeutic area | Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 19.0 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10026970 |
E.1.2 | Term | McArdles disease |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 19.0 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10026969 |
E.1.2 | Term | McArdle's disease |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 19.0 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10018462 |
E.1.2 | Term | Glycogen storage disease type V |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
To investigate the effect of Triheptanoin treatment on exercise performance in patients eith McArdle Disease |
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E.2.2 | Secondary objectives of the trial |
To investigate the effect of Triheptanoin treatment on: - self-reated fatigue and occurence of symptoms - maximal work capacity - exertion - glucose and fat meatbolism in patients with McArdle Disease |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
- Age > 18 years - Age < 75 years - Genetically and/or biochemically verified diagnosis of McArdle disease - Body Mass Index of 18-32 - Capacity to consent - Women in fertile age on contraceptive treatment with: Birth control pills, coil, ring, transdermal hormone patch injection of gestagen or subdermal implant. |
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E.4 | Principal exclusion criteria |
- Significant cardiac or pulmonary disease - Pregnancy (confirmed by plasma-HCG) or breastfeeding. - Inability to perform cycling exercise - Any other significant disorder that may confound the interpretation of the findings
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E.5 End points |
E.5.1 | Primary end point(s) |
During cycle ergometry exercise: - Heart rate during constant load sub-maximal exercise intensity - Maximal oxidative capacity at peak exercise intensity |
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E.5.1.1 | 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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E.5.2 | Secondary end point(s) |
- Self-rated severity of Fatigue symptoms on a Fatigue Severity Scale (FSS) - Urine concentrations of organic acids (3OH-propionate, heptanoate, methylmalonate, pimelate methylcitrate).
During cycle ergometry exercise: - Maximal workload capacity - Plasma concentrations of lactate, ammonia, glucose, FFA, acyl-carnitines and malate (a CAC intermediate), creatine kinase. - Rate of Perceived Exertion during constant workload cycling (RPEconst).
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E.5.2.1 | 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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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | No |
E.6.5 | Efficacy | No |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | Yes |
E.8.1.1 | Randomised | Yes |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | Yes |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | Yes |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | Yes |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 2 |
E.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 2 |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned |
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E.8.7 | Trial has a data monitoring committee | Yes |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
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the last visit of the last subject undergoing the trial |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 1 |
E.8.9.1 | In the Member State concerned months | 11 |
E.8.9.1 | In the Member State concerned days | |
E.8.9.2 | In all countries concerned by the trial years | 1 |
E.8.9.2 | In all countries concerned by the trial months | 11 |