{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T04:34:27Z","timestamp":1791434067862,"version":"4.3.3"},"reference-count":51,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T00:00:00Z","timestamp":1686182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["140165"],"award-info":[{"award-number":["140165"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Since the results of previous studies regarding the safety and efficacy of miglustat in GM2 gangliosidosis (GM2g) were inconsistent, we aimed to assess miglustat therapy in GM2g patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study followed the latest version of PRISMA. We included the observational or interventional studies reporting GM2g patients under miglustat therapy by searching PubMed, Web of Science, and Scopus. Data extracted included the natural history of individual patient data, as well as the safety and efficacy of miglustat in GM2g patients. The quality assessment was performed using the Joanna Briggs Institute Critical Appraisal checklist.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 1023 records were identified and reduced to 621 after removing duplicates. After screening and applying the eligibility criteria, 10 articles and 2 abstracts met the inclusion criteria. Overall, the studies represented 54 patients with GM2g under treatment with miglustat and 22 patients with GM2g in the control group. Among patients with available data, 14 and 54 have been diagnosed with Sandhoff disease and Tay\u2010Sachs disease, respectively. Patients included in this review consisted of 23 infantile, 4 late\u2010infantile, 18 juvenile, and 31 adult\u2010onset GM2g.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Although miglustat should not be considered a definite treatment for GM2g, it appears that patients, particularly those with infantile or late\u2010infantile GM2g, could benefit from miglustat therapy to some extent. We also make some suggestions regarding future studies presenting their findings in a standard format to facilitate pooling the available data in such rare diseases for a more comprehensive conclusion.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15871","type":"journal-article","created":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T10:18:03Z","timestamp":1684577883000},"page":"2919-2945","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Efficacy and safety of miglustat in the treatment of <scp>GM2<\/scp> gangliosidosis: A systematic review"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3726-1496","authenticated-orcid":false,"given":"Vahid","family":"Mansouri","sequence":"first","affiliation":[{"name":"Gene Therapy Research Center Digestive Diseases Research Institute, Shariati Hospital, Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali Reza","family":"Tavasoli","sequence":"additional","affiliation":[{"name":"Jefferson Institute of Molecular Medicine Thomas Jefferson University  Philadelphia Pennsylvania USA"},{"name":"Pediatric Neurology Division, Department of Pediatrics, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masoud","family":"Khodarahmi","sequence":"additional","affiliation":[{"name":"Bahar Medical Imaging Center  Karaj Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Sedigh","family":"Dakkali","sequence":"additional","affiliation":[{"name":"School of Medicine Zahedan University of Medical Sciences  Zahedan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Daneshfar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Islamic Azad University, Tabriz Branch  Tabriz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud Reza","family":"Ashrafi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division, Department of Pediatrics, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences  Tehran Iran"},{"name":"Pediatric Cell and Gene Therapy Research Center (PCGTRC) Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morteza","family":"Heidari","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division, Department of Pediatrics, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences  Tehran Iran"},{"name":"Pediatric Neurology Division, Myelin Disorders Clinic, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sareh","family":"Hosseinpour","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Vali\u2010e\u2010Asr Hospital, Imam Khomeini Hospital Complex Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fariborz","family":"Sharifianjazi","sequence":"additional","affiliation":[{"name":"School of Science and Technology University of Georgia  Tbilisi Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6055-8917","authenticated-orcid":false,"given":"Maryam","family":"Bemanalizadeh","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Division, Department of Pediatrics, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences  Tehran Iran"},{"name":"Child Growth and Development Research Center, Research 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