Table 1.
Demographics and baseline data from 22 patients with McArdle disease.
| Study site/residence | Mutation | Sex | Age | Age at diagnosis | BMI | W peak | W submax | VO2submax/VO2peak | Physical activity | |
|---|---|---|---|---|---|---|---|---|---|---|
| M:F | Years | Years | kg/m2 | Watt | Watt | % | Hours/week | |||
| Sequence 1 | ||||||||||
| DK/DK | c.148C>T/ | c.148C>T | F | 21 | 18 | 23 | 60 | 30 | 57 | 2 |
| DK/DK | c.148C>T/ | c.2262delA | M | 65 | 54 | 24 | 105 | 50 | 62 | 1 |
| DK/GB | c.148C>T/ | c.148C>T | F | 48 | 38 | 25 | 91 | 55 | 79 | 2 |
| DK/DK | c.482G>A/ | c.482G>A | M | 40 | 40 | 24 | 67 | 35 | 70 | 1 |
| *1FR/FR | c.148C>T/ | c.148C>T | M | 43 | 27 | 31 | 120 | 40 | 53 | 3 |
| *2FR/FR | c.148C>T/ | c.2392T>C | F | 45 | 32 | 25 | 65 | 25 | N/A | 4 |
| FR/FR | c.507G>T/ | c.507G>T | M | 36 | 34 | 19 | 70 | 36 | 68 | 7 |
| FR/FR | c.148C>T/ | p625N | F | 36 | 26 | 20 | 75 | 45 | 62 | 2 |
| DK/GB | c.965C>T/ | c.1430G>A | M | 23 | 11 | 36 | 48 | 18 | 59 | 0 |
| DK/GB | c.148C>T/ | c.148C>T | M | 54 | 51 | 28 | 155 | 65 | 53 | 10 |
| Group mean (n = 10): | 6:4 | 41 ± 13 | 36 ± 12 | 27 ± 4 | 89 ± 36 | 40 ± 16 | 62 ± 10 | 3 ± 3 | ||
| Sequence 2 | ||||||||||
| DK/DK | c.148C>T/ | c.2392T>C | F | 47 | 32 | 31 | 100 | 50 | 67 | 6 |
| DK/SE | c.148C>T/ | IVS5‐60G>A | F | 49 | 39 | 23 | 110 | 55 | 55 | 2 |
| *3DK/DK | c.148C>T/ | c.2392T>C | M | 62 | 45 | 35 | 110 | 55 | 69 | 0 |
| DK/DK | c.148C>T/ | c.2392T>C | M | 48 | 34 | 32 | 65 | 20 | 63 | 4 |
| DK/DK | c.148C>T/ | c.1948C>T | M | 61 | 62 | 20 | 105 | 40 | 51 | 3 |
| DK/NL | c.148C>T/ | c.1760T>C | M | 30 | 23 | 24 | 125 | 40 | 48 | 6 |
| DK/DK | c.148C>T/ | c.148C>T | M | 67 | 53 | 26 | 103 | 55 | 61 | 6 |
| FR/FR | c.148C>T/ | c.148C>T | M | 26 | 22 | 19 | 81 | 31 | 72 | 1 |
| DK/DK | c.148C>T/ | c.2262delA | M | 25 | 25 | 23 | 134 | 50 | 55 | 3 |
| FR/FR | c.148C>T/ | c.2262delA | M | 45 | 12 | 26 | 200 | 80 | 50 | 6 |
| DK/GB | c.965C>T/ | c.965C>T | M | 50 | 42 | 27 | 138 | 60 | 86 | 3 |
| DK/GB | c.965C>T/ | c.1430G>A | M | 27 | 16 | 29 | 105 | 45 | 59 | 2 |
| Group mean (n = 12): | 10:2 | 45 ± 15 | 35 ± 15 | 25 ± 4 | 115 ± 34 | 48 ± 16 | 61 ± 11 | 3 ± 2 | ||
| All included (n = 22) | 16:6 | 43 ± 14 | 35 ± 13 | 26 ± 5 | 101 ± 36 | 45 ± 15 | 62 ± 10 | 3 ± 2 | ||
| Qualified for analysis (n = 19) | 14:5 | 43 ± 14 | 36 ± 14 | 26 ± 4 | 104 ± 37 | 44 ± 16 | 61 ± 10 | 3 ± 2 | ||
Demographics and baseline data for participants in a randomized double‐blind crossover trial in patients with McArdle disease receiving 14 days of treatment with triheptanoin followed by placebo (Sequence 1) or placebo followed by triheptanoin (Sequence 2). Study sites and countries of residence are Denmark (DK), Great Britain (GB), France (FR), Sweden (SE), and the Netherlands (NL). *1) excluded from analysis due to dysregulated diabetes, *2) withdrew due to side effects, *3) excluded from analysis due to incompliance. M, Male; F, female; BMI, body mass index; W peak, exercise workload; W submax, submaximal exercise workload; VO2submax, submaximal exercise oxygen uptake, VO2peak, peak oxygen uptake; wk, week.