The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Moeenaldeen AlSayed; Fatma Al-Jasmi; Tawfeg Ben Omran; Fathiya Al-Murshedi; Rawda Sunbul; Nadia Al-Hashmi; Talal Al-Enazi

doi:10.24911/JBCGenetics/183-1664963756

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Online Published: 09 Feb 2023

JBCGenetics. 2023; 6(1): 41-56

doi: 10.24911/JBCGenetics/183-1664963756

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi.

Abstract
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene. It can lead to death in early childhood in its most severe form. According to previous registries, the birth prevalence of ASMD is nearly 0.4-0.6 per 100,000 live births. The diagnosis of ASMD is usually delayed or missed due to the wide variability of clinical manifestations of the disease. Until recently, the management of ASMD patients was based on symptomatic treatments and supportive care; however, the introduction of enzyme replacement therapy (ERT) has revolutionized the management landscape of ASMD. ERT with a recombinant human Acid Sphingomyelinase Enzyme administered intravenously demonstrated a significant improvement in the non-neuronopathic type of ASMD in phase 2/3 trials. In June 2022, the European Medical Agency granted the ERT, olipudase alfa, marketing authorization. The prevalence of inherited metabolic disorders, including lysosomal storage diseases, is relatively higher in the Arab world than in the rest of the world due to the high consanguinity rate. In this study, we aim to review the current landscape of ASMD in the Gulf Cooperation Council countries and gather insights from experts regarding the roadmap to diagnosis, prevalence, and management approaches of ASMD in the region.

Key words: Acid sphingomyelinase deficiency, lysosomal storage diseases, enzyme replacement therapy, Niemann-Pick disease, acid sphingomyelinase enzyme.

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Pubmed Style

AlSayed M, Al-Jasmi F, Omran TB, Al-Murshedi F, Sunbul R, Al-Hashmi N, Al-Enazi T. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBCGenetics. 2023; 6(1): 41-56. doi:10.24911/JBCGenetics/183-1664963756

Web Style

AlSayed M, Al-Jasmi F, Omran TB, Al-Murshedi F, Sunbul R, Al-Hashmi N, Al-Enazi T. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. https://www.jbcgenetics.com/?mno=302656906 [Access: November 14, 2024]. doi:10.24911/JBCGenetics/183-1664963756

AMA (American Medical Association) Style

AlSayed M, Al-Jasmi F, Omran TB, Al-Murshedi F, Sunbul R, Al-Hashmi N, Al-Enazi T. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBCGenetics. 2023; 6(1): 41-56. doi:10.24911/JBCGenetics/183-1664963756

Vancouver/ICMJE Style

AlSayed M, Al-Jasmi F, Omran TB, Al-Murshedi F, Sunbul R, Al-Hashmi N, Al-Enazi T. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBCGenetics. (2023), [cited November 14, 2024]; 6(1): 41-56. doi:10.24911/JBCGenetics/183-1664963756

Harvard Style

AlSayed, M., Al-Jasmi, . F., Omran, . T. B., Al-Murshedi, . F., Sunbul, . R., Al-Hashmi, . N. & Al-Enazi, . T. (2023) The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBCGenetics, 6 (1), 41-56. doi:10.24911/JBCGenetics/183-1664963756

Turabian Style

AlSayed, Moeenaldeen, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, and Talal Al-Enazi. 2023. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. Journal of Biochemical and Clinical Genetics, 6 (1), 41-56. doi:10.24911/JBCGenetics/183-1664963756

Chicago Style

AlSayed, Moeenaldeen, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, and Talal Al-Enazi. "The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region." Journal of Biochemical and Clinical Genetics 6 (2023), 41-56. doi:10.24911/JBCGenetics/183-1664963756

MLA (The Modern Language Association) Style

AlSayed, Moeenaldeen, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, and Talal Al-Enazi. "The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region." Journal of Biochemical and Clinical Genetics 6.1 (2023), 41-56. Print. doi:10.24911/JBCGenetics/183-1664963756

APA (American Psychological Association) Style

AlSayed, M., Al-Jasmi, . F., Omran, . T. B., Al-Murshedi, . F., Sunbul, . R., Al-Hashmi, . N. & Al-Enazi, . T. (2023) The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. Journal of Biochemical and Clinical Genetics, 6 (1), 41-56. doi:10.24911/JBCGenetics/183-1664963756

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