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SSIEM 2024 | Sep 3, 2024 - Sep 6, 2024

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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  • 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.

  • Early Pipeline

  • 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.

  • 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.

  • MPS1

    Mucopolysaccharidosis Type I (MPS I) is one of seven inherited, multisystem, progressive disorders caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Pathogenic variants of the IDUA gene lead to a defective enzyme with decreased activity of this enzyme causing lysosomal accumulation of GAGs, particularly dermatan and heparan sulfate. Over time, the build-up of GAGs leads to cellular dysfunction leading to cell death and organ-specific clinical manifestations.

  • 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.