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WORLDSymposium 2022 | Feb 7, 2022 - Feb 11, 2022

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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  • 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, presenting in infancy, childhood, or adulthood. Pompe disease is inherited in an autosomal recessive manner and caused by two pathogenic variants in the GAA gene. This leads to an absence or deficiency of the lysosomal enzyme acid α-glucosidase (GAA), essential for the degradation of glycogen. It results in progressive accumulation of lysosomal glycogen that can affect all muscle types.

  • 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 a deficiency of acid sphingomyelinase resulting from pathogenic variants in the SMPD1 gene. Sphingomyelin accumulates in cells mainly of the mononuclear phagocytic system and 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 absence / deficiency of lysosomal α-Galactosidase A activity, the result of pathogenic mutations in GLA.

  • Gaucher

    Gaucher disease is an autosomal recessive disorder caused by a deficiency in glucocerebrosidase (GBA) enzyme activity, encoded by the GBA gene. Deficiency or absence enzyme activity leads to a buildup of glycosylceramide (GL-1) and glucosylsphingosine (lyso-GL-1). Current findings on disease mechanism point towards not only a lower enzymatic activity of β-glucocerebrosidase, but also to an increased production of GL-1 by glucosylceramide synthase. Three clinical types are delineated by the absence (type 1) or presence (types 2 and 3) of primary CNS involvement.

  • GM2

    GM2 gangliosidosis comprises rare, autosomal recessive, neurodegenerative lysosomal storage disorders, primarily Tay-Sachs disease and Sandhoff disease. Pathogenic variants lead to a deficiency in the activity of the enzyme (β-hexosaminidase) responsible for catabolizing GM2 ganglioside. β-hexosaminidase deficiency results in lysosomal accumulation of its substrate, GM2 ganglioside, in brain and nerve cells.

  • MPS I

    Mucopolysaccharidosis Type I (MPS I) is one of the seven mucopolysaccharidoses. It is an inherited, multisystem, progressive disorder caused by a deficiency of the lysosomal enzyme α-L-iduronidase, which is encoded by the IDUA gene. Pathogenic mutations to the IDUA gene lead to a defective enzyme with lesser than normal alpha-L-iduronidase activity. The decreased activity of this enzyme causes GAGs, particularly dermatan and heparan sulfate, to accumulate in the lysosome. Over time the build-up of dermatan and heparan sulfate leads to excess cellular storage and cellular dysfunction which ultimately leads to cell death and organ-specific clinical manifestations. The tissues and organs which are affected varies.