{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T21:24:05Z","timestamp":1778534645233,"version":"3.51.4"},"reference-count":28,"publisher":"BMJ","license":[{"start":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T00:00:00Z","timestamp":1756771200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Amicus Therapeutics, Inc","award":["Not applicable"],"award-info":[{"award-number":["Not applicable"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,7,29]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent \u03b1-galactosidase A activity due to <jats:italic>GLA<\/jats:italic> variants. Females with Fabry disease often experience diagnostic delays and an underappreciated disease burden owing to their variable disease presentation and progression.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We conducted a <jats:italic>post hoc<\/jats:italic> analysis of all females from the clinical studies FACETS (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT00925301\">NCT00925301<\/jats:ext-link>) and ATTRACT (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT01218659\">NCT01218659<\/jats:ext-link>) and their open-label extensions, assessing baseline characteristics and long-term efficacy of migalastat regarding cardiac and renal function and Fabry-associated clinical events (FACEs).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Overall, 60 females had a median migalastat exposure of 5.1 years. At baseline, the median age was 47 years with multiorgan involvement in 70.0% of females (\u22652 organ systems: renal, cardiac, central nervous system, peripheral nervous system and gastrointestinal). At baseline, 21.7% of females had left ventricular hypertrophy (LVH). In multiorgan involvement and LVH subgroups, the median baseline estimated glomerular filtration rate (eGFR) was in chronic kidney disease stage 2. Annualised rate of change in left ventricular mass index remained below 1 g\/m<jats:sup>2<\/jats:sup>\/year regardless of LVH or eGFR category at baseline. Mean (SD) eGFR annualised change was \u22121.1 (2.8) mL\/min\/1.73 m<jats:sup>2<\/jats:sup> overall. Ten FACEs were reported in eight females, seven of whom had prior events. Seven FACEs were cardiac; the remaining three were cerebrovascular (all transient ischaemic attacks). The incidence of renal, cardiac and cerebrovascular events was 0, 24.9 and 10.7 events per 1000 patient-years, respectively.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>These data show that females with Fabry disease experience considerable disease severity and burden and support the long-term efficacy of migalastat for the treatment of females.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-110596","type":"journal-article","created":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T17:20:17Z","timestamp":1756833617000},"page":"jmg-2024-110596","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Long-term efficacy of migalastat in females with Fabry disease"],"prefix":"10.1136","clinical-trial-number":[{"clinical-trial-number":"nct00925301","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct01218659","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct00925301","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct01218659","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct01458119","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct02194985","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2515-2097","authenticated-orcid":false,"given":"Staci","family":"Kallish","sequence":"first","affiliation":[{"name":"Division of Translational Medicine and Human Genetics, Department of Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7604-0496","authenticated-orcid":false,"given":"Antonia","family":"Camporeale","sequence":"additional","affiliation":[{"name":"Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Cincinnati Children\u2019s Hospital, Cincinnati, Ohio, USA"},{"name":"University of Cincinnati College of Medicine, Cincinnati, Ohio, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Jovanovic","sequence":"additional","affiliation":[{"name":"Northern Care Alliance NHS Foundation Trust and Manchester University, Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2560-4068","authenticated-orcid":false,"given":"Peter","family":"Nordbeck","sequence":"additional","affiliation":[{"name":"University Hospital W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7783-0112","authenticated-orcid":false,"given":"Biliana O","family":"Veleva-Rotse","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics, Inc, Princeton, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Krusinska","sequence":"additional","affiliation":[{"name":"Amicus Therapeutics, Inc, Princeton, New Jersey, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roser","family":"Torra","sequence":"additional","affiliation":[{"name":"Inherited Renal Disorders, Nephrology Department, Fundaci\u00f3 Puigvert, IR Sant Pau, RICORS2040, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,9,2]]},"reference":[{"key":"2025090210201160000_jmg-2024-110596v1.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.02.014"},{"key":"2025090210201160000_jmg-2024-110596v1.2","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"2025090210201160000_jmg-2024-110596v1.3","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bb05bb"},{"key":"2025090210201160000_jmg-2024-110596v1.4","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12613"},{"key":"2025090210201160000_jmg-2024-110596v1.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"2025090210201160000_jmg-2024-110596v1.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"2025090210201160000_jmg-2024-110596v1.7","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016090964"},{"key":"2025090210201160000_jmg-2024-110596v1.8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0521-2"},{"key":"2025090210201160000_jmg-2024-110596v1.9","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1007\/s10897-008-9179-7","article-title":"Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease","volume":"17","author":"Gibas","year":"2008","journal-title":"J Genet Couns"},{"key":"2025090210201160000_jmg-2024-110596v1.10","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-016-0473-4","article-title":"Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease","volume":"11","author":"Lenders","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"2025090210201160000_jmg-2024-110596v1.11","doi-asserted-by":"crossref","DOI":"10.3390\/ijms17121965","article-title":"Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey","volume":"17","author":"Barba-Romero","year":"2016","journal-title":"Int J Mol Sci"},{"key":"2025090210201160000_jmg-2024-110596v1.12","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0451-z"},{"key":"2025090210201160000_jmg-2024-110596v1.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.07.007"},{"key":"2025090210201160000_jmg-2024-110596v1.14","article-title":"Long-term follow-up of renal function in patients treated with migalastat for Fabry disease","volume":"28","author":"Bichet","year":"2021","journal-title":"Mol Genet Metab Rep"},{"key":"2025090210201160000_jmg-2024-110596v1.15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-108669"},{"key":"2025090210201160000_jmg-2024-110596v1.16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2022-108523"},{"key":"2025090210201160000_jmg-2024-110596v1.17","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1510198"},{"key":"2025090210201160000_jmg-2024-110596v1.18","doi-asserted-by":"crossref","DOI":"10.1002\/jimd.12771","article-title":"Renal and multisystem effectiveness of 3.9\u2009years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry","volume":"48","author":"Hughes","year":"2025","journal-title":"J Inherit Metab Dis"},{"key":"2025090210201160000_jmg-2024-110596v1.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2023.10.016"},{"key":"2025090210201160000_jmg-2024-110596v1.20","doi-asserted-by":"publisher","DOI":"10.1016\/J.KINT.2023.10.018"},{"key":"2025090210201160000_jmg-2024-110596v1.21","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03503-4","article-title":"Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease","volume":"19","author":"Lenders","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2025090210201160000_jmg-2024-110596v1.22","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehp588"},{"key":"2025090210201160000_jmg-2024-110596v1.23","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2008.06.036"},{"key":"2025090210201160000_jmg-2024-110596v1.24","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-025-03600-y","article-title":"Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease","volume":"20","author":"Lenders","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"2025090210201160000_jmg-2024-110596v1.25","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.ymgme.2018.06.004","article-title":"European expert consensus statement on therapeutic goals in Fabry disease","volume":"124","author":"Wanner","year":"2018","journal-title":"Mol Genet Metab"},{"key":"2025090210201160000_jmg-2024-110596v1.26","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2008.03.007"},{"key":"2025090210201160000_jmg-2024-110596v1.27","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104863"},{"key":"2025090210201160000_jmg-2024-110596v1.28","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-015-0338-2","article-title":"Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years\u2019 treatment","volume":"10","author":"Kampmann","year":"2015","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg-2024-110596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T17:20:19Z","timestamp":1756833619000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg-2024-110596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,2]]},"references-count":28,"alternative-id":["10.1136\/jmg-2024-110596"],"URL":"https:\/\/doi.org\/10.1136\/jmg-2024-110596","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,2]]}}}