What is the FSASD consortium?
Learn more about the work of the FSASD consortium
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Lysosomal free sialic acid storage disorder (FSASD) is a rare, neurodegenerative condition caused by defects in the SLC17A5 gene, leading to the accumulation of sialic acid in lysosomes. This disorder presents with various symptoms, including coarse facial features, organomegaly, and progressive neurodegenerative issues such as cognitive impairment and muscular hypotonia. The clinical spectrum ranges from severe infantile onset, often fatal in early childhood, to a milder form known as Salla disease, where individuals can live into adulthood.
With approximately 200 reported cases worldwide, FSASD is likely underdiagnosed due to its rarity and nonspecific symptoms. The lack of routine urine sialic acid testing contributes to diagnostic delays. Unfortunately, there is currently no approved therapy for FSASD.
To address these challenges, the FSASD consortium, a collaboration of worldwide experts, the National Institutes of Health, and the FSASD patient advocacy group (Salla Treatment and Research Foundation), aims to collect data that encourage industry involvement in developing and commercializing FSASD treatments. The recently published review below emphasizes the need for increased awareness, improved diagnostics, and the ongoing efforts to pave the way for therapeutic approaches in the future. For more detailed information, you can refer to the associated article from the FSASD consortium.