Care Practices in Gaucher Disease: Results of a French Study.
Authors: Nadia Belmatoug , Guffon Nathalie , Stirnemann Jérôme , Serratrice Christine , Robert Alain , Rose Christian , Bruno Padrazzi , Kaminsky Pierre 
Published: October 2019

Abstract
Abstract 4441

Introduction
Gaucher Disease (GD) management is well defined but little is known about the management of patients in routine practice. To describe it, this multicentre retrospective survey was proposed to all French Hospital Departments in whom Gaucher patients are monitored. Demographic and clinical data were collected, and therapeutic regimens were detailed.

Results
In 2008, 118 patients were enrolled in 54 centres, including 111 type 1 (GD1) and 7 type 3 (GD3). 90% of patients were adults at inclusion. At time of diagnosis 40% of GPS patients were less than 16 years. Glucocerebrosidase activity assay and bone marrow aspiration were part of the diagnosis in 80% and 51% of patients, respectively. A family survey has been performed in all children and overall in 85 % of patients, with positive results in 44% of cases. 54% of patients are managed by the physician who diagnosed the GD and the mean annual number of visits at hospital is 10 and 4 for children and adults, respectively. In patients diagnosed after the age of 16 years, 20.7% were splenectomised at time of inclusion. On average, hemogram and chitotriosidase are assessed twice a year, as bone mineral density and skeletal MRI are performed every 2 years. Ninety-six patients are treated with imiglucerase, 3 patients with miglustat and 2 patients with a combination of both. Adult patients were treated on average for 87.6 months versus 53 months for children. The mean Imiglucerase dose is 54 U/kg by infusion for GD1 with no significant difference regarding infusions frequencies, and 96 U/kg for GD3 and The treatment is infused every two weeks in 74% of the patients, and every 3 weeks in 18% of them, using a gravity infusion in 57 % of the cases. Only 7.8% of the GPS population is infused using a central venous access with similar rates in adults and children. Infusions are administered at hospital in 60% of cases and at patient's home in 40% of cases. A central venous access is used in 11% of patients who are treated at home. Infusion time is less than 2 hours in 55% of patients and is slightly longer at home compared to hospital. Observance is good or excellent in more than 95% of cases.

Conclusion
This is the first large national survey about Care Practices in GD patients. The clinical and biological follow-up is globally in line with French Guidelines. Treatment with imiglucerase is administered on average at the recommended dose and frequency, but with an infusion time often longer than that recommended. Patients should be more frequently treated at home, and thus quality of life studies and encouragement of home infusions organisation should be performed in France.

Disclosures:
Off Label Use: Cerezyme (imiglucerase) : enzymatic replacement therapy for Gaucher disease patients. The aim of imiglucerase is to replace glucocerebrosidase deficiency; The dose of treatment initiation is 60u/kg/2 weeks.. Bruno:Genzyme: Employment.