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We strongly support this need, and the collaboration with the patient community to collect data, as promoted in this publication. Our concern, however, is that this paper may be misunderstood as suggesting that the Sanofi-run Rare Disease Registries (RDRs) are sufficient to provide the datasets needed to evaluate current and future therapies. Industry-driven registries focus on their own product(s) and, therefore, do not provide the opportunity to compare products from different companies. Today, multiple companies produce treatments for all diseases included in the RDRs. Each company will have to run its own registry for regulatory purposes. This will lead to data fragmentation, which is prohibitive of truly understanding the effects of the various treatment options for these rare diseases. Therefore, independently funded and owned registries are essential to generate real-world evidence (RWE) unrelated to specific products. We discuss options for this for Pompe disease, including the International Pompe Survey, which has collected patient-reported outcomes independently from industry since 2002. This letter aims to raise awareness of the problem of siloed data and advocate for a new way forward where independent registries provide post-marketing surveillance data.<\/jats:p>","DOI":"10.1186\/s13023-025-03552-3","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T17:05:33Z","timestamp":1739552733000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Real-world evidence for Pompe disease remains fragmented. Comment on \u201cA rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem\u201d by Klein et al."],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-8700-0591","authenticated-orcid":false,"given":"Michelle E.","family":"Kruijshaar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiffany","family":"House","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maudy T. M.","family":"Theunissen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Wenninger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Hundsberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Diaz-Manera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ans T.","family":"van der Ploeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadine A. M. 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Orphanet J Rare Dis. 2013;8:49.","journal-title":"Orphanet J Rare Dis"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03552-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03552-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03552-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T17:05:38Z","timestamp":1739552738000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03552-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,14]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3552"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03552-3","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,14]]},"assertion":[{"value":"26 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"This letter was written independently of the pharmaceutical industry. Benedikt Schoser has received unrestricted research grants from Amicus, Astellas, Roche. diagnostics, Marigold Foundation, AMDA Foundation and speaker\u2019s honoraria from Amicus Therapeutics Inc., Alexion, Kedrion and Sanofi. He has participated as a scientific advisor for Amicus, Argenx, Astellas, Bayer, Pepgen, Sanofi, Spark and Taysha. He declares no stocks or shares. Pascal Laforet has received research grants from Amicus Therapeutics Inc. and Sanofi, AMDA Foundation, Association Francophone des Glycog\u00e9noses, Vaincre les Maladies Lysosomales (VML) and speaker\u2019s honoraria from Amicus Therapeutics Inc. and Sanofi. He has participated as a scientific advisor for Amicus Therapeutics Inc., Sanofi and Spark Therapeutics. He declares no stocks or shares. Jordi Diaz-Manera has received research grants from Spark, Sarepta, Sanofi and Boehringer Ingelheim and payments for consultancy or as speaker from Amicus Therapeutics, Astellas, Sanofi, Sarepta, Lupin and Boehringer Ingelheim and payments for consultancy or as a speaker from Amicus Therapeutics, Astellas, Sanofi, Sarepta, Lupin and Spark. He declares no stocks or shares. Ans T. van der Ploeg has acted as advisor and participated in clinical trials, registries and\/or investigational projects for Amicus Therapeutics, Alexion, AskBio, Astellas, Bayer, Biogen, Biomarin, Chiesi, Denali, Dynacure, Pharming, Sarepta, Sanofi Genzyme, Ultragenix under agreements between the industry and Erasmus MC University Medical Center. Nadine A. M. E. van der Beek has participated in advisory board meetings for Sanofi and Bayer and has received speaker honoraria from Sanofi under agreements between Erasmus MC University Medical Center and the relevant industry. All other authors declare no financial or other conflicts of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"74"}}