Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Pediatric populations represent a major fraction of rare diseases and compound the intrinsic
challenges of pediatric drug development and drug development for rare diseases. The …

Fabry disease (FD) is an X-linked lysosomal rare disease due to a deficiency of α-
galactosidase A activity. The accumulation of glycosphingolipids mainly affects the kidney …

Type 1 Gaucher disease (GD1) is a rare, autosomal recessive disorder caused by
glucocerebrosidase deficiency. Skeletal manifestations represent one of the most …

Failure to achieve efficacy is among the top, if not the most common reason for clinical trial
failures. While there may be many underlying contributors to these failures, selecting the …

Fabry disease (FD) is an X-linked lysosome storage disease that results in the accumulation
of globotriaosylceramide (Gb3) throughout the body leading to irreversible target organ …