{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:37Z","timestamp":1791494917686,"version":"4.3.4"},"reference-count":40,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T00:00:00Z","timestamp":1658707200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"NHMRC Senior Research Fellowship","award":["APP1117105"],"award-info":[{"award-number":["APP1117105"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1\/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products. This clinical information can be systematically collected from caregivers through data collation efforts\u2014yet, no such database has existed for MDS before now. Here, in this methodological study, we document the development, launch and management of the international MECP2 Duplication Database (MDBase). The MDBase consists of an extensive family questionnaire that collects information on general medical history, system-specific health problems, medication and hospitalisation records, developmental milestones and function, and quality of life (for individuals with MDS, and their caregivers). Launched in 2020, in its first two years of operation the MDBase has collected clinical data from 154 individuals from 26 countries\u2014the largest sample size to date. The success of this methodology for the establishment and operation of the MDBase may provide insight and aid in the development of databases for other rare neurodevelopmental disorders.<\/jats:p>","DOI":"10.3390\/children9081111","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T21:20:59Z","timestamp":1658784059000},"page":"1111","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9875-0704","authenticated-orcid":false,"given":"Daniel","family":"Ta","sequence":"first","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Downs","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"Curtin School of Allied Health, Curtin University, Bentley, WA 6102, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth","family":"Baynam","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"Rare Care Centre, Perth Children\u2019s Hospital, Nedlands, WA 6009, Australia"},{"name":"Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, WA 6904, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Wilson","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"Curtin School of Allied Health, Curtin University, Bentley, WA 6102, Australia"},{"name":"North Entrance, Perth Children\u2019s Hospital, 15 Hospital Ave, Nedlands, WA 6009, Australia"},{"name":"Discipline of Paediatrics, School of Medicine, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Richmond","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"},{"name":"North Entrance, Perth Children\u2019s Hospital, 15 Hospital Ave, Nedlands, WA 6009, Australia"},{"name":"Discipline of Paediatrics, School of Medicine, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aron","family":"Schmidt","sequence":"additional","affiliation":[{"name":"<i>MECP2<\/i> Duplication Foundation, Tuscon, AZ 85724, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Decker","sequence":"additional","affiliation":[{"name":"<i>MECP2<\/i> Duplication Foundation, Tuscon, AZ 85724, USA"},{"name":"Department of Paediatrics, University of Arizona College of Medicine, Tuscon, AZ 85724, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Leonard","sequence":"additional","affiliation":[{"name":"Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,7,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1007\/978-3-319-67144-4_30","article-title":"The European Union Policy in the Field of Rare Diseases","volume":"1031","author":"Moliner","year":"2017","journal-title":"Adv. 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