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WORLD Symposium 2026 | Feb 2, 2026 - Feb 6, 2026

Rare Diseases

Lysosomal storage disorders (LSDs)—a group of rare genetic conditions caused by enzyme deficiencies—are one of Sanofi’s proudest business cornerstones and the medical area for which it is most well-known. Focusing on LSDs and other uncommon and underserved medical conditions, Sanofi’s Rare Disease franchise is committed to empowering the lives of patients with rare diseases by offering sustainable, transformative healthcare options resulting in Better Care for Rare.

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  • Gaucher

    Gaucher disease is an autosomal recessive disorder caused by a deficiency in glucocerebrosidase (GBA) enzyme activity. Deficiency or absence of the enzyme leads to buildup of glycosylceramide (GL-1) and glucosylsphingosine (lyso-GL-1). Three clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary CNS involvement. Type 3 disease is a chronic neuronopathic disorder with wide-ranging effects and diverse neurological manifestations.

  • ASMD

    Acid Sphingomyelinase Deficiency (ASMD), historically known as Niemann-Pick disease (NPD) types A, A/B, and B, is a rare, autosomal recessive disease caused by pathogenic variants of the SMPD1 gene. In these patients, sphingomyelin accumulates in cells mainly of the mononuclear phagocytic system and the organs most affected include the liver, spleen, lungs, nervous system, and skeletal system.

  • Fabry

    Fabry disease is an X-linked, multi-systemic, genetic disorder of glycosphingolipid metabolism. Clinical manifestations are due to an absence or deficiency of lysosomal α-Galactosidase A caused by pathogenic variants in the GLA gene.

  • Pompe

    Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare genetic lysosomal storage disease with a wide range of clinical phenotypes. Two pathogenic variants of the acid α-glucosidase (GAA) gene lead to an inability to degrade glycogen and lysosomal accumulation can affect all muscle types.