The Gaucher registry: Demographics and disease characteristics and response to enzyme replacement therapy (ERT) for 78 pediatric patients (PTS)

Neal J. Weinreb*, Hans Andersson, Joel Charrow, Paige Kaplan, Edwin H. Kolodny

*Corresponding author for this work

Research output: Contribution to journalArticle

Abstract

The Gaucher Registry is the largest database of pts with Gaucher disease (GD). This report describes the baseline demographic and clinical characteristics and response to ERT for 78 Type 1 pédiatrie GD pts who were between 5-10 years of age at the time of first ERT infusion with a dose of at least 60 units/kg/2 weeks. Results: Genotype frequency data is available for 65% of pts; the four most prevalent genotypes were: N370S/? (27%), N370S/L444P (25%), N370S/N370S (12%), and N370S/84GG (10%). None of the pts in this population were reported to have a total splenectomy prior to ERT. The mean (SD) age at diagnosis was 5.0 (2.2) yrs. Mean (SD) baseline hemoglobin (Hgb) was 10.4 (1.5) g/dl and mean (SD) baseline PLTs was 100,000/(il (38,000). Hepatomegaly 1.25 multiples of normal (MN) was present in 100% of the 35 pts reporting baseline values; 29% of pts reported liver volumes 2.5 MN. Mean (SD) baseline liver volume was 2.1 MN (0.5). Splenomegaly 5 MN was reported in 100% of the 41 pts with data; 56% had splenomegaly 15MN. Mean (SD) baseline spleen volume was 24.8 MN (19.2). Skeletal manifestations were common. 87% had radiologie evidence of bone disease including marrow infiltration (72%), Erlenmeyer Rask Deformity (61%), osteopenia (41%), infarction (17%), avascular necrosis (13%), lytic lesions (11%), and fracture (7%). 54% reported bone pain and 21% reported bone crises. For pts abnormal at baseline, the most rapid improvement in Hgb, PLTs, liver volume, and spleen volume occurred between 6 and 24 mos, with a sustained response through 48 mos. At 24 mos, mean absolute Hgb increased 3.1 g/dL and mean percent change in PLT increased 82.9%. At 24 mos, mean liver volumes decreased by 32.1% and mean spleen volumes decreased by 61.5%. Bone response to ERT cannot yet be assessed in this population due to insufficient data. Conclusions: In children 5-10 years old at first ERT infusion, severe manifestations of GD are common, including substantial organomegaly and bone disease, and may occur even in those homozygous for N370S. Compared to the degree of organomegaly and bone disease, hématologie parameters are relatively less severe and cannot be used alone to predict disease severity. The data indicate that ERT at 60 units/kg/2 weeks completely or partially ameliorates GD associated anemia, thrombocytopenia, and organomegaly.

Original languageEnglish (US)
JournalBlood
Volume96
Issue number11 PART I
StatePublished - Dec 1 2000

ASJC Scopus subject areas

  • Hematology

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