Huizing et al. Page 12 and development timelines, high development and production costs, and small numbers of A uthor Man patients for each rare disease make industry and academic researchers weigh the cost, time and risks associated with therapy development [20, 21]. Recent multidisciplinary efforts successfully overcame scientific, clinical and financial challenges facing the development of new drug treatments, including an effort for the lysosomal storage disorder Niemann Pick uscr Disease Type C [22]. ipt FSASD is a typical example of one such rare disease, which still lacks therapeutic initiatives two decades after identification of SLC17A5 as causative for FSASD [1]. Our recently initiated multidisciplinary consortium aims to collaboratively accelerate therapeutic development for FSASD. This review summarizes the current status, recent progress and opportunities for FSASD and can be used as a guide to address the substantial number of pending aspects (Table 4) that require our collaborative attention to bring therapeutic options A to individuals afflicted with this challenging inborn error of sialic acid metabolism. uthor Man Supplementary Material Refer to Web version on PubMed Central for supplementary material. uscr ipt Funding: This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. FSASD Consortium members: a c 1 a 2 David R Adams, Kostantin Dobrenis, Jessica Foglio, William A Gahl, Bruno Gasnier, A a a 3 a 4 Mary Hackbarth, Marjan Huizing, Monkol Lek, May CV Malicdan, Liisa E Paavola, uthor Man d 5 c b,c Marc C Patterson, Richard Reimer, Steven U Walkley, Melissa Wasserstein, Raymond 6 7 Y Wang, Roberto Zoncu 1 Salla Treatment and Research (STAR) Foundation, Bronx, NY, 10471, United States uscr 2 Université de Paris, Saints-Pères Paris Institute for the Neurosciences (SPPIN), Centre ipt National de la Recherche Scientifique (CNRS), 75006, Paris, France 3 Department of Genetics, Yale School of Medicine, New Haven, CT, 06519, United States 4 Neural Ltd, Center of Neuropsychology, 90100, Oulu, Finland; Oulu University Hospital, Department of Neurology, 90029, Oulu, Finland A uthor Man 5 Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, 94305, CA; Palo Alto Veterans Administration Health Care System, Palo Alto, 94304, CA, United States uscr 6 Division of Metabolic Disorders, Children’s Hospital of Orange County, 92868, CA; University of California-Irvine School of Medicine, Irvine, 92868, CA, United States ipt Neurosci Lett. Author manuscript; available in PMC 2021 June 11.