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

¹Department of Endocrinology, Diabetes, Nutrition, Geneva University Hospitals, Geneva, Switzerland.
²Department of Internal Medicine, Reference Center for Lysosomal Diseases, AP-HP Nord, Paris Cité University, Beaujon Hospital, Paris, France.
³Center for Epidemiology and Statistics, Université Paris Cité (CRESS), INSERM U1153, Paris, France.
⁴Department of Internal Medicine, Haut Lévêque Hospital, Bordeaux University Hospital, Pessac, France.
⁵Biochemical and Molecular Biology Department, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, France.
⁶Institute of Cancerology and Hematology, CHRU Morvan, Brest, France.
⁷Department of Internal Medicine, Pontchaillou University Hospital, Rennes, France.
⁸Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France.
⁹Department of Clinical Hematology, Hospital Saint Vincent de Paul, Lille, France.
¹⁰Department of Internal Medicine, Timone University Hospital, Marseille, France.
¹¹Department of Internal Medicine, Saint-Eloi Hospital, University Hospital, Montpellier, France.
¹²Department of Internal Medicine and Clinical Immunology, F. Mitterrand University Hospital, Dijon, France.
¹³Department of Internal Medicine, La Croix Saint Simon Hospital, Paris, France.
¹⁴Department of Internal Medicine, Saint Exupery Clinic, Toulouse, France.
¹⁵Department of General Pediatrics, CHI Creteil, Créteil, France.
¹⁶Hematology Department, University Hospital of Besançon, Besançon, France.
¹⁷Department of Pediatric Neurology, French Reference Center for Hereditary Metabolic Diseases, Hôpital Timone Enfants, Marseille, France.
¹⁸Research and Innovation Department, University Hospital of Montpellier, Montpellier, France.
¹⁹Service de Médecine Interne, CHU Hôtel Dieu, Nantes, France.
²⁰Hematology Department and EA 7453 CHELTER, Clermont Auvergne University and CHU Clermont-Ferrand, Clermont-Ferrand, France.
²¹Department of Internal Medicine, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland.
²²Division of Internal Medicine of the Aged, Geneva University Hospitals, Geneva, Switzerland.

⁰Department of Endocrinology, Diabetes, Nutrition, Geneva University Hospitals, Geneva, Switzerland.

Journal of Inherited Metabolic Disease +

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March 20, 2025

View abstract on PubMed

Summary

Patients with mild Type 1 Gaucher Disease (GD1) may not need treatment. This prospective study found no significant disease progression in untreated individuals, suggesting potential cost-effective management strategies for mild cases.

Area Of Science

Rare diseases
Genetics and heredity
Metabolic disorders

Background

Type 1 Gaucher Disease (GD1) management includes enzyme replacement and substrate reduction therapies.
Treatment initiation criteria differ globally.
Retrospective data suggest some GD1 patients remain stable without treatment.

Purpose Of The Study

To prospectively evaluate the natural progression of untreated, non-splenectomised GD1 patients.
To track clinical, radiological, and biological markers over time.
To inform cost-effective management strategies for mild GD1.

Main Methods

Prospective follow-up of 36 never-treated, non-splenectomised GD1 patients from the French Gaucher Disease Registry.
Median follow-up duration of 6.5 years.
Monitoring of clinical, radiological, and biological parameters.

Main Results

17 patients remained untreated, 10 initiated treatment, 7 were lost to follow-up.
No significant worsening of symptoms or biological markers (platelets, chitotriosidase, lyso-Gb1) observed in untreated patients.
No significant differences in age at symptom onset, diagnosis, or follow-up between treated and untreated groups in this small cohort.

Conclusions

Mild GD1 patients may remain untreated without disease progression.
This finding offers insights into potential cost-effective management.
Identifying patients suitable for non-treatment remains a challenge.

Keywords:

follow‐up gaucher disease lysosomal storage disorder natural history therapy