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

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.