ArticleOrphanet journal of rare diseases2026
The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00358943 (Gaucher Disease Registry Protocol), which is not on this map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Gaucher Disease Registry Protocol
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGaucher disease (GD) in children is highly heterogeneous, severe, and particularly devastating in GD type 3 (GD3), which has systemic and neurological involvement. Imiglucerase enzyme replacement therapy is well-established for managing hematovisceral and skeletal manifestations in GD type 1 (GD1). Its long-term impact in GD3 remains underexplored, with evidence limited to small, single-center cohorts and one registry analysis with limited follow-up.
methodsThis longitudinal analysis used data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry as of January 2023. Children diagnosed with GD1 or GD3 who started imiglucerase before age 18 years and had an intact spleen and at least one baseline and follow-up measurement were included. Linear mixed models were used to evaluate long-term treatment response of hemoglobin, platelet count, liver and spleen volumes, and Z-scores for height, weight, body mass index, and total lumbar spine bone mineral density (BMD).
resultsIn total, 961 children with GD1 and 236 with GD3 met the inclusion criteria, representing a population with severe disease requiring early imiglucerase therapy at a median age (25th, 75th percentile) of 7.8 (4.3, 12.0) years for GD1 and 1.9 (1.4, 3.4) years for GD3. Significant hematological and visceral improvements were observed within the first 1.5 years of treatment (p < 0.001 for all parameters), followed by incremental gains during up to two decades. Height Z-scores increased substantially during the first three years of treatment (p < 0.001). Total lumbar spine BMD Z-scores improved (p < 0.05).
conclusionsThis is the largest, most comprehensive global evaluation of long-term imiglucerase therapy in pediatric GD1 and GD3. Despite complex disease burden in GD3, imiglucerase therapy led to marked hematovisceral disease reversal and meaningful growth improvements, closely paralleling responses in GD1. These findings emphasize the importance of early diagnosis and sustained treatment to optimize long-term outcomes. REGISTRATION (REGISTRY): NCT00358943 (registration date: April 1, 1991). CLINICAL TRIAL: Not applicable.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.