Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Mar;48(2):e70026.
doi: 10.1002/jimd.70026.

Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up

Alberto Nasce  1 , Yann Nguyen  2   3 , Nadia Belmatoug  2 , Karima Yousfi  2 , Fabrice Camou  4 , Magali Pettazzoni  5 , Florence Dalbies  6 , Bérengère Cador  7 , Anaïs Brassier  8 , Samia Pichard  8 , Bénédicte Hivert  9 , Laure Swiader  10 , Ivan Bertchansky  11 , Vanessa Leguy Seguin  12 , Wladimir Mauhin  13 , Leonardo Astudillo  14 , Isabelle Hau Rainsard  15 , Sébastien Humbert  16 , Celia Hoebeke  17 , Dalil Hamroun  18 , Agathe Masseau  19 , Marc G Berger  20 , Jérôme Stirnemann  21 , Christine Serratrice  22 ; Comité d'Evaluation et de Traitement de la maladie de Gaucher (CETG)
Affiliations

Never-Treated, Non Splenectomised Patients With Gaucher Disease (The French GANT Study): The Prospective Follow-Up

Alberto Nasce et al. J Inherit Metab Dis. 2025 Mar.

Abstract

Treatment options for Type 1 Gaucher Disease (GD1) include enzyme replacement therapy and oral substrate reduction therapy. The criteria for treatment initiation vary across regions. Recent retrospective studies have highlighted the natural progression of never-treated GD1, suggesting that some patients remain asymptomatic or stable for extended periods. However, there is no data on long-term prospective follow-up. We conducted a prospective study following a cross-sectional analysis of 36 never-treated, non-splenectomised GD1 patients from the French Gaucher Disease Registry (FGDR). The objective was to describe the natural disease progression, tracking clinical, radiological, and biological characteristics over time. Thirty-six non-splenectomised and never-treated patients (19 women and 17 men) diagnosed with Gaucher Disease were prospectively followed for an additional median duration of 6.5 (5-8.3) years. Of the cohort, 17 remained untreated, 10 initiated treatment, and 7 were lost to follow-up. Although never-treated patients tended to be older at the time of first symptoms, diagnosis, and last follow-up compared to those who received treatment, the difference was not significant in this small cohort. At last follow-up, never-treated patients had no worsening of most of their symptoms. No significant changes were observed in platelets, chitotriosidase, and lyso-Gb1. In this prospective cohort, we highlight that patients with mild GD can remain untreated with no disease progression, offering insights into cost-effective management strategies. Identifying such patients is still challenging.

Keywords: follow‐up; gaucher disease; lysosomal storage disorder; natural history; therapy.

PubMed Disclaimer

References

    1. R. O. Brady, J. N. Kanfer, and D. Shapiro, “Metabolism of Glucocerebrosides. II. Evidence of an Enzymatic Deficiency in Gaucher's Disease,” Biochemical and Biophysical Research Communications 18 (1965): 221–225.
    1. G. A. Grabowski, “Phenotype, Diagnosis, and Treatment of Gaucher's Disease,” Lancet 372, no. 9645 (2008): 1263–1271.
    1. P. K. Mistry, N. Belmatoug, S. vom Dahl, and R. Giugliani, “Understanding the Natural History of Gaucher Disease,” American Journal of Hematology 90, no. Suppl 1 (2015): S6–S11.
    1. J. Stirnemann, N. Belmatoug, F. Camou, et al., “A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments,” International Journal of Molecular Sciences 18, no. 2 (2017): 441.
    1. M. Wątek, E. Piktel, T. Wollny, et al., “Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development,” International Journal of Molecular Sciences 20, no. 4 (2019): 843.