Table 1 Characteristics of patients at the time of evaluation of metreleptin therapy
Patients | Age (years) | Sex (M/F) | Disease (gene mutation) | Baseline serum leptin (ng/ml) | Baseline/Delta BMI (kg/m2) | Baseline/Delta Tg (mmol/l) | Baseline/Delta HbA1c (%, pt) | Duration of metreleptin therapy (months) | Treatment adherence | Effectiveness (%) | Side effects (%) | Ease and comfort of use (%) | Global satisfaction (%) | Changes in physical appearance | Changes in social interactions |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 64 | F | FPLD2 | 0.59 | 22.8 | 1.93 | 7.7 | 60 | A | 66.7 | 100 | 66.7 | 66.7 | + | + |
−2.4 | −0.04 | − 0.5 | |||||||||||||
2 | 41 | F | FPLD2 | 1.43 | 25.7 | 3.32 | 7.7 | 60 | P | 58.3 | 41.7 | 33.3 | 50 | – | + |
−2.9 | −0.35 | 0.1 | |||||||||||||
3 | 29 | F | CGL1 (HMZ AGPAT2 p.L165-Q196del) | 0.13 | 26.8 | 10.41 | 8.7 | 61 | E | 83.3 | 100 | 83.3 | 83.3 | ++ | ++ |
−0.8 | −6.73 | −1.9 | |||||||||||||
4 | 22 | F | CGL1 (HMZ AGPAT2 p.Q196fsX228) | 1.73 | 20.3 | 1.79 | 7.6 | 54 | P | 66.7 | 50 | 44.4 | 58.3 | ++ | 0 |
−1.7 | −0.51 | −2.5 | |||||||||||||
5 | 27 | F | FPLD (unknown origin) | 4.5 | 21.4 | 32.70 | 10.6 | 55 | A | 58.3 | 91.7 | 55.6 | 66.7 | ++ | ++ |
0.3 | −12.72 | − 0.7 | |||||||||||||
6 | 19 | M | AGL | 0.15 | 23.1 | 12.75 | 11.9 | 60 | P | 41.7 | 50 | 33.3 | 33.3 | NC | + |
2.0 | −11.46 | −4.0 | |||||||||||||
7 | 56 | F | CGL1 (HMZ AGPAT2 p.K216X) | 0.15 | 21.5 | 4.02 | 8.1 | 59 | E | 83.3 | 91.7 | 72.2 | 83.3 | – | ++ |
−3.3 | −2.68 | 0.0 | |||||||||||||
8 | 54 | F | FPLD2 | 4.12 | 24.5 | 1.76 | 8.5 | 48 | E | 83.3 | 100 | 66.7 | 83.3 | ++ | + |
−2.7 | 0.75 | −0.8 | |||||||||||||
9 | 45 | F | FPLD2 | 3.44 | 23.0 | 2.58 | 6.9 | 48 | E | 83.3 | 100 | 66.7 | 83.3 | ++ | ++ |
−3.7 | 0.36 | 0.3 | |||||||||||||
10 | 22 | F | FPLD2 | 5.64 | 25.0 | 9.87 | 12.1 | 48 | A | 75 | 100 | 66.7 | 83.3 | ++ | ++ |
−1.5 | −1.93 | −3.3 | |||||||||||||
11 | 53 | F | FPLD2 | 3.60 | 23.2 | 1.5 | 7.1 | 48 | A | 66.7 | 100 | 66.7 | 83.3 | + | + |
−1.9 | 1.03 | −0.7 | |||||||||||||
12 | 19 | F | Progeroid LD (HTZ LMNA p.D47Y) | 1.12 | 17.4 | 5.0 | 10.4 | 48 | P | 50 | 75 | 44.4 | 50 | + | 0 |
−1.4 | 0.26 | −2.9 | |||||||||||||
13 | 39 | F | FPLD2 | 3.92 | 25.1 | 2.82 | 7.1 | 48 | A | 66.7 | 100 | 50 | 83.3 | ++ | ++ |
−1.9 | −1.36 | −1.1 | |||||||||||||
14 | 47 | M | FPLD3 (HTZ PPARG p.L339X) | 4.20 | 29.0 | 9.26 | 10.8 | 42 | A | 41.7 | 91.7 | 50 | 58.3 | NC | + |
−1.8 | 2.87 | −1.5 | |||||||||||||
15 | 31 | F | CGL1 (HMZ AGPAT2 p.Q196fsX228) | 2.18 | 23.7 | 1.00 | 8.7 | 36 | P | 50 | 100 | 44.4 | 50 | – – | + |
−1.0 | −0.03 | - 0.3 | |||||||||||||
16 | 13 | F | AGL | 2.8 | 18.7 | 20.46 | 12.2 | 22 | A | 33.3 | 41.7 | 33.3 | 50 | – | – – |
−0.1 | −15.13 | −3 | |||||||||||||
17 | 71 | M | CGL1 (HMZ AGPAT2 p.E172K) | 0.34 | 20.0 | 5.29 | 8.3 | 18 | A | 75 | 100 | 55.6 | 83.3 | NC | ++ |
0.0 | −3.29 | −1.8 | |||||||||||||
18 | 48 | F | FPLD3 (HTZ PPARG p.L339X) | 8.4 | 31.1 | 26.67 | 8.0 | 12 | A | 91.7 | 100 | 55.6 | 100 | ++ | ++ |
−0.7 | −23.52 | − 0.3 | |||||||||||||
19 | 18 | M | CGL2 (HMZ BSCL2 p.R138X) | 3.4 | 19.9 | 2.74 | 5.5 | 108 | A | 75 | 100 | 55.6 | 83.3 | ++ | ++ |
0.7 | −0.19 | −0.3 | |||||||||||||
20 | 22 | M | CGL2 (HMZ BSCL2 p.R138X) | 0.8 | 25.3 | 5.25 | 5.3 | 108 | E | 75 | 100 | 55.6 | 91.7 | ++ | ++ |
−0.8 | −0.72 | −0.2 | |||||||||||||
Median (IQT 25;75) | 35.0 (22.0–51.7) | 2.5 (0.6;4.1) | 23.4 (20.6;25.3) | 4.5 (2.4;10.3) | 8.2 (7.2;10.6) | 51.0 (43.5;60) | 66.7 (52.1;81.2) | 100 (79.1;100) | 55.7 (44.4;66.7) | 83.3 (52.1;83.3) | |||||
−1.4 (− 0.2;-2.3) | − 0.6 (− 0.2;-5.9) | − 0.7 (− 0.2;-1.9) |