TABLE 1.
Study participants.
| Patient No. a | CFTR genotype (Legacy name) | Gender | Assessment prior to ELX/TEZ/IVA therapy | Assessment during ELX/TEZ/IVA therapy | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| age (yr) | BMI (kg/m2) | FEV1 %pred | Sweat Cl− (mM) | age (yr) | BMI (kg/m2) | FEV1 %pred | Sweat Cl− (mM) | |||
| 1 | F508del/2184insA | F | 16.0 | 21.9 | 93 | 106 | 16.3 | 22.5 | 106 | 20 |
| 2 | F508del/CFTRdele2,3 (21 kb) | F | 21.3 | 19.2 | 53 | 103 | 21.6 | 19.2 | 82 | 14 |
| 3 | F508del/2721del11 | F | 14.0 | 17.4 | 85 | 104 | 14.3 | 18.6 | 94 | 25 |
| 4 | F508del/CFTRdele2,3 (21 kb) | F | 13.7 | 20.0 | 129 | 104 | 14.1 | 19.6 | 147 | 54 |
| 5 | F508del/N1303K | F | 17.3 | 25.0 | 71 | 109 | 17.6 | 25.7 | 83 | 101 |
| 6 | F508del/CFTRdele2,3 (21 kb) | F | 13.8 | 19.4 | 110 | 110 | 14.0 | 22.9 | 126 | 40 |
| 7 | F508del/F508del | F | 12.5 | 15.6 | 53 | 95 | 12.8 | 17.1 | 89 | 10 |
| 8 | F508del/2184delA | F | 14.7 | 18.5 | 104 | 113 | 15.0 | 18.8 | 115 | 65 |
| 9 | F508del/F508del | F | 13.6 | 19.8 | 107 | 104 | 13.9 | 19.8 | 112 | 27 |
| 10 | F508del/1078delT | F | 12.7 | 17.9 | 101 | 88 | 13.0 | 18.6 | 117 | 41 |
| 11 | F508del/G542X | F | 20.7 | 15.8 | 46 | 92 | 21.2 | 18.1 | 76 | 38 |
| 12 | F508del/394delTT | F | 12.0 | 14.2 | 63 | 98 | 12.4 | 16.5 | 83 | 70 |
| 13 | F508del/F508del | F | 24.3 | 20.2 | 93 | 101 | 24.6 | 21.3 | 124 | 79 |
| 14 | F508del/1078delT | F | 15.5 | 17.9 | 113 | 99 | 15.8 | 17.9 | 126 | 44 |
| 15 | F508del/F508del | F | 14.2 | 15.2 | 74 | 87 | 14.5 | 16.9 | 103 | 25 |
| 16 | F508del/G542X | M | 17.1 | 20.2 | 84 | 108 | 17.5 | 20.3 | 115 | 90 |
| 17 | F508del/R553X | M | 44.0 | 28.1 | 82 | 102 | 44.4 | 29.5 | 87 | 53 |
| 18 | F508del/E822X | M | 12.8 | 21.1 | 80 | 108 | 13.2 | 21.1 | 88 | 36 |
| 19 b | F508del/F508del | M | 44.8 | 21.1 | 62 | 108 | 45.2 | 22.5 | 88 | 52 |
| 20 | F508del/F508del | M | 13.9 | 15.8 | 95 | 98 | 14.2 | 16.1 | 116 | 30 |
| 21 | F508del/2184delA | M | 12.7 | 15.1 | 89 | 115 | 13.1 | 16.8 | 118 | 50 |
| Median [IQR] | 14.2 [13.6–17.3] | 19.1 [15.8–20.2] | 85 [71–100] | 104 [98–108] | 14.5 [13.9–17.6] | 19.2 [17.9–21.3] | 106 [88–117] | 41 [27–54] | ||
a
Results presented are part of a larger, multi-center trial at four study centers of the German Center for Lung Research designed to analyze effects of ELX/TEZ/IVA treatment on different clinical parameters and biomaterials (NCT04732910) (Graeber et al., 2022). Sampling of rectal biopsies for CFTR protein content by western blot analyses was only performed in the subgroup of patients recruited at Hannover Medical School, according to the ethical approval # 8922_BO_S_2020 from the Hannover ethics committee.
b
Patient 19 had continuously administered tezacaftor/ivacaftor for 18 months prior to triple therapy. All other study participants were modulator–naïve at baseline.