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Laminin-a2-related muscular dystrophy (LAMA2-MD) has a similar clinical phenotype, which ranges from severe, early-onset congenital muscular dystrophy type 1A (MDC1A) to milder forms presenting as childhood- or adult-onset limb-girdle type muscular dystrophy. The first 1.5-year natural history follow-up showed that 90% of the patients had low bone quality, respiratory impairments were found in all SELENON-RM and most of the LAMA2-MD patients, and many had cardiac risk factors. However, further extensive knowledge on long-term natural history data, and clinical and functional outcome measures is needed to reach trial readiness. Therefore, we extended the natural history study with 3- and 5-year follow-up visits (Extended LAST STRONG).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The Extended LAST STRONG is a long-term natural history study in Dutch-speaking patients of all ages diagnosed with genetically confirmed SELENON-RM or LAMA2-MD, starting in September 2023. Patients visit our hospital twice over a period of 2 years to complete a 5-year follow up from the initial LAST-STRONG study. At both visits, they undergo standardized neurological examination, hand-held dynamometry (age\u2009\u2265\u20095 years), functional measurements, muscle ultrasound, respiratory assessments (spirometry, maximal inspiratory and expiratory pressure, sniff nasal inspiratory pressure; age\u2009\u2265\u20095 years), Dual-energy X-ray absorptiometry (DEXA-)scan (age\u2009\u2265\u20092 years), X-ray of the left hand (age\u2009\u2264\u200917 years), lower extremity MRI (age\u2009\u2265\u200910 years), accelerometry for 8 days (age\u2009\u2265\u20092 years), and questionnaires (patient report and\/or parent proxy; age\u2009\u2265\u20092 years). All examinations are adapted to the patient\u2019s age and functional abilities. Disease progression between all subsequent visits and relationships between outcome measures will be assessed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Discussion<\/jats:title>\n                <jats:p>This study will provide valuable insights into the 5-year natural history of patients with SELENON-RM and LAMA2-MD and contribute to further selecting relevant and sensitive to change clinical and functional outcome measures. Furthermore, this data will help optimize natural history data collection in clinical care and help develop clinical care guidelines.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Trial registration<\/jats:title>\n                <jats:p>This study protocol including the patient information and consent forms has been approved by medical ethical reviewing committee (\u2018METC Oost-Nederland\u2019; <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/www.ccmo.nl\/metcs\/erkende-metcs\/metc-oost-nederland\">https:\/\/www.ccmo.nl\/metcs\/erkende-metcs\/metc-oost-nederland<\/jats:ext-link>, file number: 2023\u201316401). It is registered at ClinicalTrials.gov (NCT06132750; study registration date: 2023-10-05; study first passed date: 2023-11-15).<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12883-024-03852-4","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T05:02:55Z","timestamp":1729659775000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study"],"prefix":"10.1186","volume":"24","author":[{"given":"E. C. 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The duplicate author name has been removed.","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2024","order":7,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":8,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":9,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1186\/s12883-024-03994-5","URL":"https:\/\/doi.org\/10.1186\/s12883-024-03994-5","order":10,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study is performed in accordance with the Declaration of Helsinki and has been approved by the medical ethical reviewing committee of Oost-Nederland (NL84381.091.23, dossier number 2023\u201316401; date of approval of last amendment: 26 September 2023). 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