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ASHG 2024 | Nov 5, 2024 - Nov 9, 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.