Review Article
Volume: 6 | Issue: 1 | Published: Feb 09, 2023 | Pages: 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
Authors: Moeenaldeen AlSayed , Fatma Al-Jasmi , Tawfeg Ben Omran , Fathiya Al-Murshedi , Rawda Sunbul , Nadia Al-Hashmi , Talal Al-Enazi
Article Info
Authors
Moeenaldeen AlSayed
King Faisal Specialist Hospital& Research Center, Saudi Arabia
Fatma Al-Jasmi
Department of Genetics & Genomics, United Arab Emirates University, United Arab Emirates
Tawfeg Ben Omran
Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, Qatar
Fathiya Al-Murshedi
Genetic and Developmental Medicine Clinic, Department of Genetics, Sultan Qaboos University Hospital, Oman
Rawda Sunbul
Qatif Central Hospital, Saudi Arabia
Nadia Al-Hashmi
Royal Hospital, Oman
Talal Al-Enazi
Prince Sultan Military Medical City, Saudi Arabia.
Publication History
Received: October 05, 2022
Revised: January 01, 2023
Accepted: January 17, 2023
Published: February 09, 2023
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.
Keywords: Acid sphingomyelinase deficiency, lysosomal storage diseases, enzyme replacement therapy, Niemann-Pick disease, acid sphingomyelinase enzyme
Pubmed Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBC Genetics. 2023; 09 (February 2023): 41-56. doi:10.24911/JBCGenetics/183-1664963756
Web Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. https://www.jbcgenetics.com/articles/2082 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1664963756
AMA (American Medical Association) Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBC Genetics. 2023; 09 (February 2023): 41-56. doi:10.24911/JBCGenetics/183-1664963756
Vancouver/ICMJE Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi. The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBC Genetics. (2023), [cited April 27, 2025]; 09 (February 2023): 41-56. doi:10.24911/JBCGenetics/183-1664963756
Harvard Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi (2023) The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. JBC Genetics, 09 (February 2023): 41-56. doi:10.24911/JBCGenetics/183-1664963756
Chicago Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi. "The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region." 09 (2023), 41-56. doi:10.24911/JBCGenetics/183-1664963756
MLA (The Modern Language Association) Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi. "The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region." 09.February 2023 (2023), 41-56. Print. doi:10.24911/JBCGenetics/183-1664963756
APA (American Psychological Association) Style
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi (2023) The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region. , 09 (February 2023), 41-56. doi:10.24911/JBCGenetics/183-1664963756