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

2023, Vol: 6, Issue: 2

6 / 2Current Issue Online First Archive Aims and Scope Abstracting & Indexing Most Accessed Articles Most Downloaded Articles Most Cited Articles

Required files to be uploaded

Title Page

« Previous Article

Review Article

Online Publishing Date:
09 / 02 / 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.

	ARTICLE TOOLS
	Abstract
	PDF Fulltext
	How to cite this article
	Citation Tools
	Related Records
	Articles by Moeenaldeen AlSayed Articles by Fatma Al-Jasmi Articles by Tawfeg Ben Omran Articles by Fathiya Al-Murshedi Articles by Rawda Sunbul Articles by Nadia Al-Hashmi Articles by Talal Al-Enazi
	on Google
	on Google Scholar

How to Cite this Article

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: March 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 March 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

Most Viewed Articles

Most Accessed Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

The role of C-terminal tensin-like (Cten) gene in cancer metastasis
Saleh Alghamdi, Sarah Alkwai, Mohammad Ilyas
JBCGenetics. 2018; 1(1): 2-9
» Abstract » doi: 10.24911/JBCGenetics/183-1531548689

Clinical reassessment of post-laboratory variant call format (VCF) files
Lamia Alsubaie, Saeed Alturki, Ali Alothaim, Ahmed Alfares
JBCGenetics. 2018; 1(1): 31-36
» Abstract » doi: 10.24911/JBCGenetics/183-1529928114

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes
AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih
JBCGenetics. 2018; 1(1): 37-39
» Abstract » doi: 10.24911/JBCGenetics/183-1530040885

Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern
Maram Alojair, Abdulaziz Alghamdi, Kalthoum Tlili, Sateesh Maddirevula, Fowzan Sami Alkuraya, Brahim Tabarki
JBCGenetics. 2018; 1(1): 40-42
» Abstract » doi: 10.24911/JBCGenetics/183-1531469195

Most Downloaded

Top Downloaded Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing
Kimberly A Coughlan, Rajanikanth J Maganti, Andrea Frassetto, Christine M DeAntonis, meredith Wolfrom, Anne-Renee Graham, Shawn M Hillier, Steven Fortucci, Hoor Al Jandal, Sue-Jean Hong, Paloma H Giangrande, Paolo GV Martini,
JBCGenetics. 2019; 2(1): 28-39
» Abstract » doi: 10.24911/JBCGenetics/183-1542047633

Syndactyly genes and classification: a mini review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Safdar Abbas
JBCGenetics. 2018; 1(1): 10-18
» Abstract » doi: 10.24911/JBCGenetics/183-1532177257

Consanguinity, awareness, and genetic disorders among female university students in Riyadh, Saudi Arabia
Hadil Alahdal, Huda Alshanbari, Hana Saud Almazroa, Sarah Majed Alayesh, Alaa Mohammad Alrhaili, Nora Alqubi, Fai Fahad Alzamil, Reem Albassam
JBCGenetics. 2021; 4(1): 27-34
» Abstract » doi: 10.24911/JBCGenetics/183-1601264923

Most Cited Articles

Most Cited Articles

Frontonasal dysplasia: a review
Muhammad Umair, Farooq Ahmad, Muhammad Bilal, Muhammad Arshad
JBCGenetics. 2018; 1(2): 66-76
» Abstract » doi: 10.24911/JBCGenetics/183-1530765389
Cited : 4 times [Click to see citing articles]

Genomics in Saudi Arabia Call for Data-Sharing Policy
Ahmed Alfares,
JBCGenetics. 2018; 1(2): 51-52
» Abstract » doi: 10.24911/JBCGenetics/183-1546945268
Cited : 4 times [Click to see citing articles]

Harel-Yoon syndrome: the first case report from Saudi Arabia
Alaa AlAyed, Manar A. Samman, Abdul Ali Peer-Zada, Mohammed Almannai
JBCGenetics. 2020; 3(1): 22-27
» Abstract » doi: 10.24911/JBCGenetics/183-1585816398
Cited : 2 times [Click to see citing articles]

About Journal of Biochemical and Clinical Genetics

The Journal of Biochemical and Clinical Genetics (JBCGenetics) is a peer-reviewed, open access medical journal. Owner: Saudi Society of Medical ... Read more.

For best results, please use Internet Explorer or Google Chrome.

Contact Information

Title Owner: Saudi Society of Medical Genetics

https://ssmg.org.sa/en

Society Email: info@ssmg.org.sa

Editor in Chief: dralfadhelm@jbcgenetics.com

Contact the publisher:

contact@discoverpublish.com
https://discoverpublish.com/

Publisher: Discover STM Publishing Ltd,

82 Leslie's Arch, Old Quarter, Ballincollig, Cork, P31 RY62, Ireland.

Hours: M-F: 8:30am - 5:30pm

Contact Emails:

Journal Editorial Office: contact@jbcgenetics.com

Billing Support: contact@discoverpublish.com

Technical Support:
anastasiia.pavlenco@sofiafields.com
https://sofiafields.com/

POLICIES & JOURNAL LINKS

About Journal of Biochemical and Clinical Genetics

Contact Information

How to cite this article