TABLE 1.
Demographic characteristics and Gaucher genotype distribution by eliglustat treatment group
| Parameter | Treatment‐Naïve a (N = 19) | Switch (N = 212) | |
|---|---|---|---|
| No splenectomy (N = 176) | Splenectomy (N = 36) | ||
| Sex, n (%) | |||
| Male | 8 (42) | 88 (50) | 10 (28) |
| Female | 11 (58) | 88 (50) | 26 (72) |
| Age at diagnosis in years, mean ± SD | 26 ± 12.5 | 22 ± 15.4 | 15 ± 13.5 |
| Age at initiation of eliglustat in years, mean ± SD | 42 ± 18.0 | 42 ± 15.2 | 52 ± 9.7 |
| Duration of previous treatment in years, mean ± SD | 0 | 14.2 ± 6.6 b | 17.0 ± 6.5 |
| CYP2D6‐metabolizer phenotype, n (%) | |||
| Ultra‐rapid | 1 (5) | 4 (2) | 1 (3) |
| Extensive | 12 (63) | 117 (67) | 29 (81) |
| Intermediate | 4 (21) | 37 (21) | 0 |
| Poor | 1 (5) | 7 (4) | 1 (3) |
| Indeterminate/unknown | 0 | 1 (1) | 1 (3) |
| Not reported | 1 (7) | 10 (6) | 4 (11) |
| Geographic distribution, n (%) | |||
| United States | 17 (90) | 157 (89) | 31 (86) |
| Canada and Europe | 2 (10) | 18 (10) | 4 (11) |
| Other | 0 | 1 (<1) | 1 (3) |
| Genotype, n (%) | |||
| N370S/N370S (p.Asn409Ser/p.Asn409Ser) | 11 (58) | 64 (36) | 2 (6) |
| N370S/L444P (p.Asn409Ser/p.Leu483Pro) | 1 (5) | 25 (14) | 9 (25) |
| N370S/Rare Allele (p.Asn409Ser/Rare Allele) | 0 | 30 (17) | 3 (8) |
| N370S/84GG (p.Asn409Ser/p.Leu29AlafsTer18) | 1 (5) | 13 (7) | 4 (11) |
| N370S/? (p.Asn409Ser/?) | 0 | 10 (6) | 3 (8) |
| Rare Allele/Rare Allele | 1 (5) | 8 (4) | 6 (17) |
| L444P/Rare Allele (p.Leu483Pro/Rare Allele) | 0 | 4 (2) | 3 (8) |
| N370S/IVS2+1 (p.Asn409Ser/IVS2+1G>A) | 0 | 6 (3) | 0 |
| N370S/D409H (p.Asn409Ser/p.Asp448His) | 2 (10) | 4 (2) | 1 (3) |
| 84GG/Rare Allele (p.Leu29AlafsTer18/Rare allele) | 0 | 1 (<1) | 0 |
| 84GG/? (p.Leu29AlafsTer18/?) | 0 | 1 (<1) | 0 |
| L444P/? (p.Leu483Pro/?) | 0 | 0 | 1 (3) |
| Rare Allele/? | 0 | 1 (<1) | 1 (3) |
| L444P/L444P (p.Leu483Pro/p.Leu483Pro) | 0 | 0 | 1 (3) |
| Unknown | 3 (16) | 9 (5) | 2 (6) |
Note: Percentages are based on the number of patients in the population, not the number of patients with data.
a
All naïve patients had intact spleens.
b
One patient who had a treatment start date prior to 1989 was excluded from the treatment duration analysis.