Abstract
Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) with extensive, intermediate, or poor CYP2D6-metabolizer phenotypes (90% of patients). We report real-world outcomes after 2 years of eliglustat therapy in the International Collaborative Gaucher Group Gaucher Registry (NCT00358943). As of January 2019, baseline and 2-year data (±1 year) were available for 231 eliglustat-treated GD1 patients: 19 treatment-naïve (zero splenectomized) and 212 ERT patients who switched to eliglustat (36 splenectomized). Most patients (89%) were from the United States, where eliglustat was first approved. In treatment-naïve patients, mean hemoglobin increased from 12.4 to 13.4 g/dL (P =.004, n = 18), mean platelet count increased from 113 to 156 × 109/L (P <.001, n = 17); mean spleen volume decreased from 7.4 to 3.5 multiples of normal (MN) (P =.02, n = 7); mean liver volume remained normal (n = 7), and median spine Z-score was unchanged (−1.3 to −1.2, n = 6). In non-splenectomized switch patients, mean hemoglobin remained stable/non-anemic (n = 167); mean platelet count remained stable/normal (n = 165); mean spleen volume decreased from 3.3 to 2.8 MN (P <.001, n = 64); mean liver volume remained normal (n = 63), and median lumbar spine Z-score improved from −0.7 to −0.4 (P =.014, n = 68). In splenectomized switch patients, mean hemoglobin remained stable/non-anemic (n = 31); mean platelet count increased from 297 to 324 × 109/L (non-significant, n = 29); mean liver volume remained normal (n = 13); median spine Z-score improved from −0.8 to −0.6 (non-significant, n = 11). Median chitotriosidase decreased in all groups (P <.01 for all). These real-world results are consistent with eliglustat clinical trial results demonstrating long-term benefit in treatment-naïve patients and stability in ERT switch patients.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 1038-1046 |
| Number of pages | 9 |
| Journal | American Journal of Hematology |
| Volume | 95 |
| Issue number | 9 |
| DOIs | |
| State | Published - Sep 1 2020 |
Funding
This study was sponsored by Sanofi Genzyme. L.H.U. is an employee of Sanofi Genzyme and M.R.M. was an employee of Sanofi Genzyme during the time this manuscript was developed. All other authors (P.K.M., M.B., J.C., P.K., C.N.) are members of regional advisory boards of the ICGG Gaucher Registry and/or are principal investigators in clinical trials sponsored by Sanofi Genzyme, and have received research funding, educational grants, honoraria, consulting fees, and/or travel reimbursement from Sanofi Genzyme. J.C. has also served on advisory boards for Amicus and BioMarin; received support for multicenter trials from Shire, Amicus, BioMarin, Protalix; and honoraria for speaking from Shire and the Fabry Support and Information Group. C.N. has also received honoraria for scientific talks, grants, and advice from AbbVie, Alexion, Biogen, BMS, Boehringer, Falk, Gilead, Janssen, MSD, Roche, and Takeda‐Shire. The authors thank the patients with Gaucher disease, their physicians and health-care personnel who submit data to the ICGG Gaucher Registry and the Gaucher Registry support team at Sanofi Genzyme. We thank Elizabeth Singer (Sanofi Genzyme) for programming support and Laurie LaRusso (Chestnut Medical Communications) for medical writing support paid for by Sanofi Genzyme.
ASJC Scopus subject areas
- Hematology