Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

Abstract

The Gaucher Outcome Survey (GOS) is an international Gaucher disease (GD) registry established in 2010 for patients with a confirmed GD diagnosis, regardless of GD type or treatment status, designed to evaluate the safety and long‐term effectiveness of velaglucerase alfa and other GD‐related treatments. As of February 25, 2017, 1209 patients had enrolled, the majority from Israel (44.3%) and the US (31.4%). Median age at GOS entry was 40.4 years, 44.1% were male, and 13.3% had undergone a total splenectomy. Most patients had type 1 GD (91.5%) and were of Ashkenazi Jewish ethnicity (55.8%). N370S/N370S was the most prevalent genotype, accounting for 44.2% of genotype‐confirmed individuals (n = 847); however, there was considerable variation between countries. A total of 887 (73.4%) patients had received ≥1 GD‐specific treatment at any time, most commonly imiglucerase (n = 587), velaglucerase alfa (n = 507), and alglucerase (n = 102). Hematological and visceral findings at the time of GOS entry were close to normal for most patients, probably a result of previous treatment; however, spleen volume of patients in Israel was almost double that of patients elsewhere (7.2 multiples of normal [MN] vs. 2.7, 2.9 and 4.9 MN in the US, UK and rest of world), which may be explained by a greater disease severity in this cohort. This analysis aimed to provide an overview of GOS and present baseline demographic and disease characteristics of participating patients to help improve the understanding of the natural history of GD and inform the overall management of patients with the disease.

Identification of risk features for complication in Gaucher’s Disease patients: A Machine Learning analysis of the Spanish Registry of Gaucher Disease.

“…Also, our data, shown an analysis of the main clinical features of GD patients at diagnosis; in accordance with previous reports (2,6,(10)(11)(12), general characteristics such as polyclonal gammopathies, bone pain, bone vascular lesions, hypertriglyceridemia, splenomegaly and family history of parkinsonism, would be ndings that can help to identify GD patients.…”

“…Also, it has been impossible to de ne a complete phenotype-genotype correlation (7)(8)(9) or to create a prognosis model for complications. Because of these the initiative to create registries has been developed by different institutions, research groups, and pharmaceutical companies; allowing a continuous improvement in the knowledge of the disease (10)(11)(12).…”

Lysosomal storage disease overview

“…There are three clinical phenotypes: Gaucher disease type I, which does not have neurologic involvement, and types II and III, the so-called neuronopathic forms which both feature neurologic impairment. Gaucher disease type I accounts for more than 90% of cases of Gaucher disease (40,41). Common disease manifestations include hepatosplenomegaly, thrombocytopenia, anemia, bone pain, and poor growth in children.…”

Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease

“…Gaucher disease (GD), one of the two most common inherited lysosomal storage disorders, is known for its phenotypic heterogeneity [4,5]. Patients with type 1 GD (GD1) may present with significant clinical features such as hepatosplenomegaly, thrombocytopenia, anemia, fatigue, and bone disease, whereas other patients with GD1 may be very mildly affected or even asymptomatic [6].…”