Rare Diseases

Rare diseases, also known as orphan diseases, are defined by the European Union as life-threatening or chronically disabling diseases with a low prevalence (less than 5 per 10,000). Rare diseases currently affect 3.5% - 5.9% of the world's population, which equates to 263–446 million persons affected globally. More than 6000 different rare diseases have been clinically defined.^1,2

Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis and delaying treatment. Typically disabling, the quality of life of a person living with a rare disease is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.³

Lysosomal storage diseases

Lysosomal storage diseases (LSDs) are a group of more than 70 rare inborn errors of metabolism characterized by deficiencies in normal lysosomal function. LSDs are caused by inherited defects in genes encoding various lysosomal proteins, most commonly lysosomal enzymes.⁴

A subgroup of lysosomal storage diseases includes lysosomal accumulation of glycosphingolipids, including Fabry disease, Gaucher disease, Pompe disease, mucopolysaccharidosis or ASMD.⁴