Table 1– Baseline patient characteristics
Ataluren dose level
Low#HighCombined
Age yrs21 (19–57)27 (19–45)26 (19–57)
Sex
 Male8210
 Female459
BMI22.3 (15.4–27.8)21.8 (19.0–26.6)21.8 (15.4–27.8)
Sweat chloride+ mEq·L−188 (47–109)89 (49–106)88 (47–109)
Nasal total chloride transport§ mV1.6 (-1.6–9.3)-0.3 (-2.3–1.9)0.7 (-2.3–9.3)
Pulmonary function % predƒ
 FEV164 (44–106)65 (46–92)65 (44–106)
 FVC82 (63–109)77 (57–101)78 (57–109)
Pathological lung infection12618
Pseudomonas aeruginosa11617
Mycobacterium abscessus202
 Methicillin-resistant Staphylococcus aureus101
 None011
Pancreatic insufficiency
 Exocrine11617
 Endocrine257
Abnormalities of liver-related serum parameters325
 ALT022
 AST101
 Alkaline phosphatase213
 GGT000
 Bilirubin101
 LDH101
Genotype allele 1/allele 2
 G542X (UGA)/ΔF508202
 G542X (UGA)/W1282X (UGA)011
 G542X (UGA)/N1303K011
 W1282X (UGA)/ΔF5088210
 W1282X (UGA)/W1282X (UGA)123
 W1282X (UGA)/3849+10kB C→T## (UAA)011
 3849+10kB C→T## (UAA)/ΔF508101
Time from last ataluren dose in prior study months10.5 (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].