Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

• Published in: Orphanet journal of rare diseases Vol. 17; no. 1; p. 87
• Main Authors: Verma, I C, El-Beshlawy, A, Tylki-Szymańska, A, Martins, A, Duan, Y-L, Collin-Histed, T, van der Linde, M Schoneveld, Mansour, R, Dũng, V C, Mistry, Pramod K
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 04.04.2022; BioMed Central; BMC
• Subjects: Advocacy; Blood diseases; Care and treatment; Charitable program; Charities, Medical; Child; Collaboration; Delivery of Health Care; Enzyme replacement therapy; Humanitarian Program; Humanitarianism; Humans; Infant, Newborn; Infrastructure; Initiatives; Laboratories; Leadership; Logistics; Lysosomal enzymes; Lysosomal Storage Diseases; Lysosomal storage disorders; Medical research; Metabolism, Inborn errors of; Morbidity; Neonates; Pediatrics; Physicians; Planning; Rare Diseases; Reimbursement; Review; Social aspects; India; United States > US; Rare diseases; Charitable program; Lysosomal storage disorders; Enzyme replacement therapy; Humanitarian Program
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-022-02192-1

Rare diseases affect > 400 million people globally with a disproportionate burden falling on children, resulting in high morbidity and mortality rates. Affected individuals in some under-resourced countries have limited access to expert care or treatments; moreover, they suffer long diagnostic journeys during which debilitating and life-threatening complications occur. Lysosomal storage disorders (LSD) are prototype rare diseases due, in the main, to inherited deficiencies of lysosomal enzymes/transporters that affect up to 1 in 5000 newborns. Recognizing the need to provide treatment access to people with LSDs everywhere, a collaborative partnership was pioneered and set up 30 years ago. Partnering with local authorities, non-government organizations across six continents, local as well as international experts, a robust, sustainable Humanitarian Program emerged that now represents the most enduring charitable access program for LSD treatment. Here we present the history, process, lasting beneficial effect of the program to develop healthcare systems and infrastructures, and the lessons learned from addressing major unmet needs for LSDs.