Background: We retrospectively comp

Background: We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment
with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT.
Methods: Seventeen GD1 patients were included (n = 6 eliglustat, (two switched from ERT), n = 9 miglustat (seven
switchers), n = 4 ERT (median dose 60U/kg/m). Plasma protein markers reflecting disease burden (chitotriosidase,
CCL18) and lipids reflecting substrate accumulation (glucosylsphingosine, glucosylceramide) were determined.
Also, liver and spleen volumes, hemoglobin, platelets, and fat fraction were measured.
Results: In patients naïve to treatment, chitotriosidase, CCL18 and glucosylsphingosine decreased comparably
upon eliglustat and ERT treatment, while the response to miglustat was less. After 2 years, median decrease of
chitotriosidase was 89 % (range 77–98), 88 % (78–92) and 37 % (29–46) for eliglustat, ERT and miglustat naïve
patients respectively; decrease of CCL18 was 73 % (63–78), 54 % (43–86), and 10 % (3–18); decrease of
glucosylsphingosine was 86 % (78–93), 78 % (65–91), 48 % (46–50). Plasma glucosylceramide in eliglustat treated
patients (n = 4) reached values below the normal range (n = 20 healthy controls). Biochemical markers decreased or
stabilized in switchers from ERT to eliglustat (n = 2), but less in miglustat switchers (n = 7). Clinical parameters
responded comparably upon eliglustat and ERT treatment.
Conclusions: Our explorative study provides evidence that biochemical markers respond comparably in patients
receiving eliglustat treatment and ERT, while the corresponding response to miglustat treatment is less.

Results (Indonesian) 2:

Latar Belakang: Kami retrospektif membandingkan respon biokimia dalam tipe 1 pasien penyakit Gaucher pengobatan
dengan sintesis glycosphingolipid inhibitor miglustat dan eliglustat dan ERT.
Metode: pasien Seventeen GD1 dimasukkan (n = 6 eliglustat, (dua beralih dari ERT), n = 9 miglustat ( tujuh
beralih), n = 4 ERT (dosis median 60U / kg / m). Plasma penanda protein mencerminkan beban penyakit (chitotriosidase,
CCL18) dan lipid mencerminkan akumulasi substrat (glucosylsphingosine, glucosylceramide) ditentukan.
Juga, volume hati dan limpa, hemoglobin , trombosit, dan fraksi lemak diukur.
Hasil: pada pasien naif untuk pengobatan, chitotriosidase, CCL18 dan glucosylsphingosine menurun comparably
pada eliglustat dan pengobatan ERT, sedangkan respon untuk miglustat kurang Setelah 2 tahun, penurunan rata-rata.
chitotriosidase adalah 89% ( kisaran 77-98), 88% (78-92) dan 37% (29-46) untuk eliglustat, ERT dan naif miglustat
pasien masing-masing; penurunan CCL18 adalah 73% (63-78), 54% (43-86) , dan 10% (18/03); penurunan
glucosylsphingosine adalah 86% (78-93), 78% (65-91), 48% (46-50). Glucosylceramide Plasma di eliglustat diperlakukan
pasien (n = 4) mencapai nilai di bawah kisaran normal (n = 20 kontrol sehat). Penanda biokimia menurun atau
stabil di beralih dari ERT ke eliglustat (n = 2), tetapi kurang dalam beralih miglustat (n = 7). Parameter klinis
menanggapi comparably pada eliglustat dan pengobatan ERT.
Kesimpulan: Penelitian eksploratif kami memberikan bukti bahwa penanda biokimia menanggapi comparably pada pasien
yang menerima eliglustat pengobatan dan ERT, sedangkan respon yang sesuai untuk pengobatan miglustat kurang.