GD1 is one of the most prevalent LSDs and the first to be successfully treated with pharmacologic recombinant enzyme replacement therapy (ERT). Gaucher disease Type 1 (GD1, OMIM 230800), a recessively inherited, pan-ethnic glycosphingolipid storage disorder is caused by deficient activity of lysosomal acid β-glucosidase (glucocerebrosidase, EC3.2.1.45, GCase) resulting from pathogenic variations in the GCase gene, GBA1. Nevertheless, despite better DS3 scores with treatment, GD1 patients especially those with splenectomy and pre-treatment bone pathology, continued to have bone complications. ERT was associated with MCII in DS3 scores in patients with high severity. ConclusionsĭS3 is effective for assessing disease burden in GD1 and for monitoring response. Among 16 evaluable mild patients, 14 remained so and 2 had DS3 scores in the low moderate range. Among 42 evaluable moderate patients, none worsened, 16 remained moderate and 26 improved to mild. At Year 5, among 48 evaluable patients with marked baseline disease, eight were unchanged in severity status whereas 40 had MCII of varying degrees with 11 scored as mild. Response to treatment: Health-state transitions occurred primarily during the early treatment years. No patient with mild disease ( N = 22 median 2.4) had splenectomy or major skeletal disease. Among patients with moderate disease ( N = 53 median 4.33), 49 % were N370S/N370S, 15.1 % had splenectomy and 17 % had major bone disease. Baseline DS3 scores: Patients with marked disease ( N = 58 median 7.84) were least likely to be N370S homozygous (19 %) and most likely to have had splenectomy (53 %), early age at diagnosis (median 18 years) and major pre-treatment bone pathology (76 %). Median age of treatment: 45 years median follow-up: 14 years. Patient characteristics: N370S was the most common allele (118 patients had at least one), 52 were N370S/N370S (48/52 were Ashkenazi Jews), N370S/L444P was the most common genotype among non-Jews. Minimal clinically important improvement (MCII), is defined as ΔDS3 of -3.1. Follow-up scores were calculated annually. Baseline DS3 scores were calculated near the initial treatment date and patients stratified by severity as marked (DS3 6.00-19.00), moderate (DS3 3.00-5.99), mild (DS3 < 3.00).

We enrolled 133 treated adult GD1 patients. We investigated this disease severity scoring system (DS3) methodology for initial assessment, long-term follow-up and evaluation of treatment responses. GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden based on bone, hematologic and visceral domains.

Better ds3 tool slow