Management goals and normalization conceptto type 1 Gaucher disease: results from a survey of expert Physicians

METHA A; PANAHLOO Z; DI ROCCO M; GOKER ALPAN O; HUGHES D; KINDMARK A; KUTER D; LUKINA E; NAKAMURA K; OLIVERI B; PEREZ LOPEZ JU; SCHWARTZ IVD; SERRATRICE C; SZER J; PASTORES _G

Simposio; 14th Annual WORLD Symposium; 2018

Gaucher disease is a rare, autosomal recessive condition caused by deficient activity of the lysosomal enzyme β-glucocerebrosidase, and characterized by hepatosplenomegaly, thrombocytopenia, and anemia. The availability of enzyme replacement therapy and substrate reduction therapy has resulted in improvements in the principal manifestations of the disease, and normalization of some modifiable disease parameters is now possible for certain patients. The primary objective of the survey was to explore the perspectives of global Gaucher disease experts on the concept of ´normalization´ of modifiable disease parameters in the management of patients with Gaucher disease. The survey was carried out in May 2017 and included 16 global Gaucher disease experts from 14 countries. 56% of respondents indicated their agreement with aiming for normalization of modifiable disease parameters, with strongest agreement for spleen size (81% of participants), liver size (75%), and hemoglobin levels (63%). 56% of respondents agreed on efforts to normalize platelet count and bone mineral density. Most respondents supported the use of all domains of the 36-item Short Form Health Survey in routine assessment, although the vitality, mental health, and social functioning domains were considered less important by one-third of respondents. Chitotriosidase, CCL18, and lyso-Gb1 (glucosylsphingosine) were considered the most useful biomarkers for monitoring Gaucher disease progression and response to treatment. In conclusion, respondents agreed that targeting the normalization of some (organ size) but not all disease parameters may be a beneficial target in the management of patients with Gaucher disease.