Ataluren dose level | |||
Low# | High¶ | Combined | |
Age yrs | 21 (19–57) | 27 (19–45) | 26 (19–57) |
Sex | |||
Male | 8 | 2 | 10 |
Female | 4 | 5 | 9 |
BMI | 22.3 (15.4–27.8) | 21.8 (19.0–26.6) | 21.8 (15.4–27.8) |
Sweat chloride+ mEq·L−1 | 88 (47–109) | 89 (49–106) | 88 (47–109) |
Nasal total chloride transport§ mV | 1.6 (-1.6–9.3) | -0.3 (-2.3–1.9) | 0.7 (-2.3–9.3) |
Pulmonary function % predƒ | |||
FEV1 | 64 (44–106) | 65 (46–92) | 65 (44–106) |
FVC | 82 (63–109) | 77 (57–101) | 78 (57–109) |
Pathological lung infection | 12 | 6 | 18 |
Pseudomonas aeruginosa | 11 | 6 | 17 |
Mycobacterium abscessus | 2 | 0 | 2 |
Methicillin-resistant Staphylococcus aureus | 1 | 0 | 1 |
None | 0 | 1 | 1 |
Pancreatic insufficiency | |||
Exocrine | 11 | 6 | 17 |
Endocrine | 2 | 5 | 7 |
Abnormalities of liver-related serum parameters | 3 | 2 | 5 |
ALT | 0 | 2 | 2 |
AST | 1 | 0 | 1 |
Alkaline phosphatase | 2 | 1 | 3 |
GGT | 0 | 0 | 0 |
Bilirubin | 1 | 0 | 1 |
LDH | 1 | 0 | 1 |
Genotype allele 1/allele 2 | |||
G542X (UGA)/ΔF508 | 2 | 0 | 2 |
G542X (UGA)/W1282X (UGA) | 0 | 1 | 1 |
G542X (UGA)/N1303K | 0 | 1 | 1 |
W1282X (UGA)/ΔF508 | 8 | 2 | 10 |
W1282X (UGA)/W1282X (UGA) | 1 | 2 | 3 |
W1282X (UGA)/3849+10kB C→T## (UAA) | 0 | 1 | 1 |
3849+10kB C→T## (UAA)/ΔF508 | 1 | 0 | 1 |
Time from last ataluren dose in prior study months | 10.5 (9.3–12.2) | 10.5 (8.5–11.5) | 10.5 (8.5–12.2) |
Data are presented as n or median (range). BMI: body mass index; % pred: % predicted; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; ALT: alanine aminotransferase; AST: aspartate aminotransferase; GGT: gamma glutamyl transferase; LDH: lactate dehydrogenase. #: 4, 4 and 8 mg·kg−1, n = 12; ¶: 10, 10 and 20 mg·kg−1, n = 7; +: upper limit of normal 40 mEq·L−1; §: upper limit of normal -5 mV [23, 24]; ƒ: based on normative data for age, sex and height [33]; ##: mutation results in an elongated mRNA containing an in-frame premature UAA stop codon [34].