Case Series: Substrate-reduction Therapy in Gaucher Disease
In this case series, 5 patients (3 female, 2 males) with gaucher disease (GD) type 1 who were treated with substrate-reduction therapy (eliglustat, 84 mg once or twice daily) for 6-years at a single institution, were included.
GD type 1 is the most common type of GD, a lysosomal storage disorder.
Of the 5 patients, 4 were switched from IV imiglucerase (28 U/kg q2 week [n = 1]) or 45 U/kg q2 week [n = 3]) and 1 was enzyme-replacement therapy naïve prior to eliglustat dosing. Two patients had 1304A > C (homozygous)/N435T mutations and 3 patients had F148V/N409S mutations.
Over the 6-year follow-up, GD Type 1 Severity Scoring System (GD-DS3) scores improved in 4 patients or remained stable in 1 patient and there was clear improvements in Gaucher Disease- Düsseldorf Gaucher Scores (GD- DGS) bone measures. Anatomical Düsseldorf Gaucher Scores improved in 4 patients or remained stable in 1 patient. Mild thrombocytopenia was resolved in 2 patients.
Splenomegaly or hepatomegaly was not reported. Over follow-up, the GD biomarkers chitotriosidase and ferritin decreased in all patients.
The authors concluded that this case series confirmed long-term treatment trends with eliglustat in this population. In this case series, treatment goals were achieved over the 6-years follow-up.
Fraga C, Medeiros S, Serpa S, Silva D. Case series Synopsis: Gaucher disease type 1 patients treated with eliglustat over 6 years. Int J Rare Dis Disord. 2020; 3:014. doi.org/10.23937/2643-4571/1710014.