{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T10:59:08Z","timestamp":1776769148075,"version":"3.51.2"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Amicus Therapeutics SAS","award":["Amicus Therapeutics SAS"],"award-info":[{"award-number":["Amicus Therapeutics SAS"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Fabry disease (FD) is a progressive X-linked lysosomal disorder caused by\n                      <jats:italic>GLA<\/jats:italic>\n                      variants resulting in deficient \u03b1-galactosidase A enzyme activity, glycolipid accumulation, and multisystemic dysfunction. Approved treatments include intravenous enzyme replacement therapy (ERT) or the oral small-molecule chaperone migalastat.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>SATIS-Fab was a 2-year, prospective, longitudinal, multicentre, non-interventional, non-comparative study conducted in France. Enrolled patients were aged\u2009\u2265\u200916 years, had FD (migalastat-amenable variant), and were receiving\/planned to initiate ERT or migalastat. The primary endpoint during follow-up (6-monthly assessments) was the FD-specific Patient Benefit Index (PBI), derived from the French-validated Patient Needs Questionnaire-Fabry and corresponding Patient Benefit Questionnaire. Secondary endpoints included the Treatment Satisfaction Questionnaire for Medication-9 (TSQM-9).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of 69 enrolled patients (mean age 51.7 years; 63.8% male; 60.9% late-onset phenotype), 39\/69 were already receiving migalastat and 17\/69 ERT. At the baseline visit, 82.6% (57\/69) were prescribed migalastat and 17.4% (12\/69) ERT. Twelve-month PBI remained stable (mean [SD] 2.36 [0.91] and 2.49 [0.94] at months 12 [\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200955] and 24 [\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200947], respectively;\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.173). Mean (SD) 24-month PBI was 2.43 (0.92), and 92.3% of patients (48\/52) had a clinically relevant treatment benefit (24-month PBI\u2009\u2265\u20091). Correlations between 24-month PBI and TSQM-9 effectiveness, convenience, and global satisfaction domain scores were 0.63, 0.43, and 0.61, respectively (all\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.0001;\n                      <jats:italic>post hoc<\/jats:italic>\n                      analysis); these results confirm the external validity of the PBI. Ten patients switched from ERT to migalastat at\/after the baseline visit and before month 24; none switched from migalastat to ERT. For those with available data (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20098), mean (SD) 12-month PBI increased by 1.14 (0.96) after switching (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.008) and TSQM-9 domain scores improved (all\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Patients with FD, mostly receiving migalastat, reported a relatively high level of treatment benefit that remained stable over 2 years. Switching from ERT to migalastat was associated with significantly increased treatment benefit. The FD-specific PBI could support shared decision making about treatment.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Trial registration<\/jats:title>\n                    <jats:p>NCT04043273 (registered 31 July 2019).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04285-7","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T12:04:23Z","timestamp":1775045063000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients\u2019 expectations and preferences from the prospective, non-interventional SATIS-Fab study"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4847-7839","authenticated-orcid":false,"given":"Olivier","family":"Lidove","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agathe","family":"Masseau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gr\u00e9gory","family":"Pugnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Dussol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"Hag\u00e8ge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yann","family":"Fardini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Fouilhoux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"No\u00ebl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,4,1]]},"reference":[{"key":"4285_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"4285_CR2","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","volume":"123","author":"A Ortiz","year":"2018","unstructured":"Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416\u201327.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"4285_CR3","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s40265-021-01486-1","volume":"81","author":"M Lenders","year":"2021","unstructured":"Lenders M, Brand E. Fabry disease: the current treatment landscape. Drugs. 2021;81(6):635\u201345.","journal-title":"Drugs"},{"issue":"5","key":"4285_CR4","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1097\/j.pain.0000000000002152","volume":"162","author":"AJ Burand Jr","year":"2021","unstructured":"Burand AJ Jr., Stucky CL. Fabry disease pain: patient and preclinical parallels. Pain. 2021;162(5):1305\u201321.","journal-title":"Pain"},{"issue":"1","key":"4285_CR5","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1111\/cge.12613","volume":"89","author":"L Echevarria","year":"2016","unstructured":"Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89(1):44\u201354.","journal-title":"Clin Genet"},{"issue":"1","key":"4285_CR6","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1186\/s13023-025-03922-x","volume":"20","author":"RJ Hopkin","year":"2025","unstructured":"Hopkin RJ, Laney D, Kazemi S, Walter A. Fabry disease in females: organ involvement and clinical outcomes compared with the general population. Orphanet J Rare Dis. 2025;20(1):433.","journal-title":"Orphanet J Rare Dis"},{"key":"4285_CR7","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/s13023-015-0296-8","volume":"10","author":"M Arends","year":"2015","unstructured":"Arends M, Hollak CE, Biegstraaten M. Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet J Rare Dis. 2015;10:77.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"4285_CR8","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1186\/s13023-024-03131-y","volume":"19","author":"A Jovanovic","year":"2024","unstructured":"Jovanovic A, Miller-Hodges E, Castriota F, Takyar S, Howitt H, Ayodele O. A systematic literature review on the health-related quality of life and economic burden of Fabry disease. Orphanet J Rare Dis. 2024;19(1):181.","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"4285_CR9","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","volume":"11","author":"S Waldek","year":"2009","unstructured":"Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009;11(11):790\u20136.","journal-title":"Genet Med"},{"issue":"8","key":"4285_CR10","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1136\/jmg.2008.065904","volume":"46","author":"A Mehta","year":"2009","unstructured":"Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, et al. Natural course of Fabry disease: changing pattern of causes of death in FOS \u2013 Fabry Outcome Survey. J Med Genet. 2009;46(8):548\u201352.","journal-title":"J Med Genet"},{"key":"4285_CR11","unstructured":"Takeda Pharmaceuticals International AG Ireland Branch. Replagal R\u00e9sum\u00e9 des Caract\u00e9ristiques du Produit. 2025. https:\/\/www.ema.europa.eu\/fr\/documents\/product-information\/replagal-epar-product-information_fr.pdf. Accessed 5 Dec 2025."},{"key":"4285_CR12","unstructured":"Sanofi BV. Fabrazyme R\u00e9sum\u00e9 des Caract\u00e9ristiques du Produit. 2024. https:\/\/www.ema.europa.eu\/fr\/documents\/product-information\/fabrazyme-epar-product-information_fr.pdf. Accessed 5 Dec 2025."},{"key":"4285_CR13","unstructured":"Amicus Therapeutics Europe Limited. Galafold R\u00e9sum\u00e9 des Caract\u00e9ristiques du Produit. 2025. https:\/\/www.ema.europa.eu\/fr\/documents\/product-information\/galafold-epar-product-information_fr.pdf. Accessed 5 Dec 2025."},{"key":"4285_CR14","unstructured":"Centre de R\u00e9f\u00e9rence de la Maladie de Fabry. Protocole National de Diagnostic et de Soins (PNDS). Maladie de Fabry. 2021. https:\/\/www.has-sante.fr\/upload\/docs\/application\/pdf\/2021-11\/pnds_de_la_maladie_de_fabry_-_version_finale_-_20211115.pdf. Accessed 5 Dec 2025."},{"issue":"3","key":"4285_CR15","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.ymgme.2018.06.004","volume":"124","author":"C Wanner","year":"2018","unstructured":"Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189\u2013203.","journal-title":"Mol Genet Metab"},{"key":"4285_CR16","doi-asserted-by":"publisher","first-page":"1220637","DOI":"10.3389\/fmed.2023.1220637","volume":"10","author":"DG Bichet","year":"2023","unstructured":"Bichet DG, Hopkin RJ, Aguiar P, Allam SR, Chien YH, Giugliani R, et al. Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study. Front Med (Lausanne). 2023;10:1220637.","journal-title":"Front Med (Lausanne)"},{"key":"4285_CR17","unstructured":"Haute Autorit\u00e9 de Sant\u00e9. Patient et professionnels de sant\u00e9: d\u00e9cider ensemble. Concept, aides destin\u00e9es aux patients et impact de la d\u00e9cision m\u00e9dicale partag\u00e9e. Haute Autorit\u00e9 de Sant\u00e9. 2013. https:\/\/www.has-sante.fr\/upload\/docs\/application\/pdf\/2013-10\/synthese_avec_schema.pdf. Accessed 5 Dec 2025."},{"issue":"1","key":"4285_CR18","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1186\/s13023-019-1254-7","volume":"14","author":"E No\u00ebl","year":"2019","unstructured":"No\u00ebl E, Dussol B, Lacombe D, Bedreddine N, Fouilhoux A, Ronco P, et al. Treatment needs and expectations for Fabry disease in France: development of a new patient needs questionnaire. Orphanet J Rare Dis. 2019;14(1):284.","journal-title":"Orphanet J Rare Dis"},{"key":"4285_CR19","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.2147\/PPA.S378724","volume":"17","author":"M Augustin","year":"2023","unstructured":"Augustin M, Sommer R, Blome C, Kirsten N, Langenbruch A. Development of a specific variant of Patient Benefit Index (PBI) assessing patient needs, goals and benefits in rosacea treatment. Patient Prefer Adherence. 2023;17:1335\u201345.","journal-title":"Patient Prefer Adherence"},{"issue":"8","key":"4285_CR20","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1007\/s00403-009-0928-8","volume":"301","author":"M Augustin","year":"2009","unstructured":"Augustin M, Radtke MA, Zschocke I, Blome C, Behechtnejad J, Schafer I, et al. The patient benefit index: a novel approach in patient-defined outcomes measurement for skin diseases. Arch Dermatol Res. 2009;301(8):561\u201371.","journal-title":"Arch Dermatol Res"},{"key":"4285_CR21","unstructured":"Derma Value. PATIENT BENEFIT INDEX (PBI). https:\/\/www.epbi.dermavalue.com\/en\/patient-benefit-index-pbi. Accessed 3 Mar 2026."},{"key":"4285_CR22","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/1477-7525-7-36","volume":"7","author":"M Bharmal","year":"2009","unstructured":"Bharmal M, Payne K, Atkinson MJ, Desrosiers MP, Morisky DE, Gemmen E. Validation of an abbreviated Treatment Satisfaction Questionnaire for Medication (TSQM-9) among patients on antihypertensive medications. Health Qual Life Outcomes. 2009;7:36.","journal-title":"Health Qual Life Outcomes"},{"issue":"24","key":"4285_CR23","doi-asserted-by":"publisher","first-page":"3130","DOI":"10.1097\/00007632-200012150-00008","volume":"25","author":"JE Ware","year":"2000","unstructured":"Ware JE. Jr. SF-36 health survey update. Spine (Phila Pa 1976). 2000;25(24):3130\u20139.","journal-title":"Spine (Phila Pa 1976)"},{"issue":"10","key":"4285_CR24","doi-asserted-by":"publisher","first-page":"2004","DOI":"10.1111\/jdv.19229","volume":"37","author":"A Costanzo","year":"2023","unstructured":"Costanzo A, Llamas-Velasco M, Fabbrocini G, Cuccia A, Rivera-Diaz R, Gaarn Du Jardin K, et al. Tildrakizumab improves high burden skin symptoms, impaired sleep and quality of life of moderate-to-severe plaque psoriasis patients in conditions close to clinical practice. J Eur Acad Dermatol Venereol. 2023;37(10):2004\u201315.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"1","key":"4285_CR25","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1186\/s13223-015-0073-1","volume":"11","author":"P Demoly","year":"2015","unstructured":"Demoly P, Aubier M, de Blay F, Wessel F, Clerson P, Maigret P. Evaluation of patients\u2019 expectations and benefits in the treatment of allergic rhinitis with a new tool: the patient benefit index \u2013 the BENEFICA study. Allergy Asthma Clin Immunol. 2015;11(1):8.","journal-title":"Allergy Asthma Clin Immunol"},{"key":"4285_CR26","doi-asserted-by":"crossref","unstructured":"Jonak C, Gottfried I, Perl-Convalexius S, Gruber B, Schutz-Bergmayr M, Vujic I, et al. Characteristics and outcomes of patients with psoriasis treated with apremilast in the real-world in Austria \u2013 results the APPRECIATE study. Ther Adv Chronic Dis. 2023;14.","DOI":"10.1177\/20406223231152785"},{"issue":"6","key":"4285_CR27","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1007\/s13555-023-00933-z","volume":"13","author":"D Jullien","year":"2023","unstructured":"Jullien D, Richard MA, Halioua B, Bessette C, Derancourt C, Bouloc A. The needs of patients with psoriasis and benefits of apremilast in French clinical practice: results from the observational REALIZE study. Dermatol Ther (Heidelb). 2023;13(6):1361\u201376.","journal-title":"Dermatol Ther (Heidelb)"},{"issue":"1","key":"4285_CR28","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/s13555-021-00628-3","volume":"12","author":"TM Klein","year":"2022","unstructured":"Klein TM, Blome C, Kleyn CE, Conrad C, Sator PG, Stahle M, et al. Real-world experience of patient-relevant benefits and treatment satisfaction with apremilast in patients with psoriasis: an analysis of the APPRECIATE study. Dermatol Ther (Heidelb). 2022;12(1):81\u201395.","journal-title":"Dermatol Ther (Heidelb)"},{"key":"4285_CR29","doi-asserted-by":"publisher","first-page":"611","DOI":"10.2147\/JAA.S357469","volume":"15","author":"A Langenbruch","year":"2022","unstructured":"Langenbruch A, Wustenberg E, Wolf H, Augustin M. Development and validation features of the Patient Benefit Index for the treatment of allergic rhinoconjunctivitis with allergen immunotherapy. J Asthma Allergy. 2022;15:611\u201321.","journal-title":"J Asthma Allergy"},{"key":"4285_CR30","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1477-7525-2-12","volume":"2","author":"MJ Atkinson","year":"2004","unstructured":"Atkinson MJ, Sinha A, Hass SL, Colman SS, Kumar RN, Brod M, et al. Validation of a general measure of treatment satisfaction, the Treatment Satisfaction Questionnaire for Medication (TSQM), using a national panel study of chronic disease. Health Qual Life Outcomes. 2004;2:12.","journal-title":"Health Qual Life Outcomes"},{"issue":"4","key":"4285_CR31","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","volume":"65","author":"C Whybra","year":"2004","unstructured":"Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet. 2004;65(4):299\u2013307.","journal-title":"Clin Genet"},{"key":"4285_CR32","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1080\/01621459.1963.10500845","volume":"58","author":"JH Ward","year":"1963","unstructured":"Ward JH. Hierarchical grouping to optimize an objective function. J Am Stat Assoc. 1963;58:236\u201344.","journal-title":"J Am Stat Assoc"},{"key":"4285_CR33","doi-asserted-by":"crossref","unstructured":"Everitt BS, Landau S, Leese M, Stahl D. Cluster analysis, 5th ed. Hoboken, NJ: John Wiley Sons; 2011.","DOI":"10.1002\/9780470977811"},{"issue":"2","key":"4285_CR34","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.jpain.2003.12.005","volume":"5","author":"G Tan","year":"2004","unstructured":"Tan G, Jensen MP, Thornby JI, Shanti BF. Validation of the Brief Pain Inventory for chronic nonmalignant pain. J Pain. 2004;5(2):133\u20137.","journal-title":"J Pain"},{"key":"4285_CR35","doi-asserted-by":"crossref","unstructured":"Jovanovic A, Miller-Hodges E, Castriota F, Evuarherhe O, Ayodele O, Hughes D et al. Clinical efficacy and real-world effectiveness of Fabry disease treatments: a systematic literature review. J Clin Med. 2025;14(14).","DOI":"10.3390\/jcm14145131"},{"issue":"2","key":"4285_CR36","doi-asserted-by":"publisher","first-page":"106981","DOI":"10.1016\/j.ymgme.2022.106981","volume":"138","author":"J Muntze","year":"2023","unstructured":"Muntze J, Lau K, Cybulla M, Brand E, Cairns T, Lorenz L, et al. Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study. Mol Genet Metab. 2023;138(2):106981.","journal-title":"Mol Genet Metab"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04285-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04285-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04285-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T10:02:09Z","timestamp":1776765729000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-026-04285-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,1]]},"references-count":36,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4285"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04285-7","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,1]]},"assertion":[{"value":"21 July 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This non-interventional study was conducted in accordance with the principles laid down by the 18th World Medical Assembly (Helsinki, 1964) and all applicable amendments laid down by the World Medical Assemblies, the International Conference for Harmonisation Good Clinical Practice guidelines, and in compliance with French laws and regulations. As required by local regulations, the protocol for the study and subsequent amendments (in this case to prolong recruitment, add\/remove sites, or change investigators) were submitted to the appropriate ethics committee for approval (Comit\u00e9 de Protection des Personnes Sud M\u00e9diterran\u00e9e IV, Montpellier, France; initial approval date 9 October 2018; CPP reference 18 09 03). All participants were informed to the fullest extent possible about the details of the study, and a written non-opposition form was signed by the participant or legally acceptable representative prior to participation in the study; for minors, non-opposition of at least one parent or holder of parental authority was required.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable for the aggregate data reported here. All individuals named in the Acknowledgements section have provided written consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"OL: travel grants and speaker honoraria from Amicus, Chiesi, and Genzyme\/Sanofi. AM: research grants from Amicus. GP: travel grants, advisory board honoraria and speaker honoraria from Amicus. DL: participation in advisory board and congress activities organized by Amicus, Chiesi, Sanofi, and Takeda. BD: fees for advisory board participation from Amicus. SB: research grants and speaker honoraria from Amicus, Chiesi, Sanofi, and Takeda. AH: consulting\/advisor fees from Alnylam, Amicus Therapeutics, Bayer, Cytokinetics, MyoKardia\/Bristol Myers Squibb, Pfizer, Sanofi Genzyme, and Tenaya Therapeutics. CM: employee and shareholder of Amicus Therapeutics SAS. YF: employee of Soladis Clinical Studies, the contract research organization in charge of managing the study. AF: research grants and travel grants from Amicus and Sanofi. EN: advisory boards and congress invitations from Amicus and Sanofi.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"162"}}