Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal
disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) …

Abstract Background Lysosomal storage diseases (LSDs) are a group of rare inherited
metabolic disorders, consisting of over 70 diseases that are characterised by lysosomal …

We empirically assess the potential financial impact of future gene therapies on the US
economy. After identifying 109 late-stage gene therapy clinical trials currently underway, we …

Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants
in the GBA1 gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to …

Background This study aimed to obtain UK societal-based utility values for health states
related to treatment mode of administration using Gaucher disease as the background …

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal-lethal
disorder to an asymptomatic type. The characterization of three major clinical types (1, 2 …

Gaucher disease (GD) is a genetic lysosomal disorder characterized by high bone marrow
(BM) involvement and skeletal complications. The pathophysiology of these complications is …

Several therapeutic options are available for type 1 Gaucher disease (GD1), including
enzymatic replacement therapy (ERT) and substrate reduction therapy (SRT). Eliglustat is a …

We empirically assess the potential financial impact of future gene therapies on the US
economy. After identifying 109 late-stage gene therapy clinical trials currently underway, we …

Decision-making requires timely and accurate information in order to understand the
implications of the actions and to manage the potential risk. This thesis presents …