{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:08:45Z","timestamp":1780528125124,"version":"3.54.1"},"reference-count":15,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T00:00:00Z","timestamp":1776902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>To determine which clinical outcomes are most meaningful to patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC) and their caregivers to enhance clinical trial readiness.<\/jats:p>\n                  <jats:p>An online survey was developed by the MLC Clinical Expert Consortium and Alliance MLC. The survey, available in eight languages, was distributed via treating neurologists and Alliance MLC, and completed anonymously by patients and caregivers. It included open-ended questions on burdensome daily-life aspects, treatment priorities, and therapy expectations; responses were categorized into functional domains. The survey also included a ranking of key symptom domains. Responses were analyzed separately for caregiver- and patient-reported burden. Subgroup analyses were performed for age (&lt;15 years vs. \u226515 years) and country of residence (T\u00fcrkiye, India, and Italy).<\/jats:p>\n                  <jats:p>Eighty-five surveys representing 83 patients were included. Motor dysfunction was most frequently reported as most burdensome for both caregivers (74%) and patients (58%), followed by communication and activities of daily living (ADL). Within the motor domain, ambulation was most frequently mentioned. Regarding the ranking, motor function scored highest in 69% of respondents. In patients \u2265 15 years, ambulation was less frequently mentioned, whereas ADL dependency was more frequently reported than in patients &lt;15 years. Comparisons between countries revealed few differences. Hopes for therapy were mainly concerned with motor improvement and halting disease progression.<\/jats:p>\n                  <jats:p>Motor function, particularly ambulation, is the most burdensome and prioritized domain for patients with MLC and their caregivers, regardless of age or country. Incorporating patient-centered priorities into future clinical trial design is essential to ensure that emerging therapies target meaningful improvements.<\/jats:p>","DOI":"10.1055\/a-2851-9956","type":"journal-article","created":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T22:51:41Z","timestamp":1776984701000},"page":"186-192","source":"Crossref","is-referenced-by-count":0,"title":["Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory"],"prefix":"10.1055","volume":"57","author":[{"given":"N. R. A.","family":"Versaevel","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Amsterdam University Medical Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Chapleau","sequence":"additional","affiliation":[{"name":"Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada"},{"name":"Alliance MLC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Topalo\u011flu","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5612-821X","authenticated-orcid":false,"given":"F.","family":"Nicita","sequence":"additional","affiliation":[{"name":"Unit of Muscular and Neurodegenerative Diseases, Bambino Ges\u00f9 Children's Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Sinha","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Center for Neurosciences and Research, NH Hospital, RN Tagore International Institute, Kolkata, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Bernard","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Neurology and Neurosurgery, Pediatrics, and Human Genetics, Department of Specialized Medicine, McGill University Health Centre, Child Health and Human Development Program, Research Institute of the McGill University Health Center, McGill University, Montreal, Quebec, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Fatemi","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Sgobbi","sequence":"additional","affiliation":[{"name":"Department of Neurology, PSEG Centro de Pesquisa Cl\u00ednica, S\u00e3o Paulo, S\u00e3o Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. M. C.","family":"Hamilton","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Amsterdam University Medical Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Marouda","sequence":"additional","affiliation":[{"name":"Alliance MLC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"van Eekelen","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Data Science, Amsterdam University Medical Center, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8912-0954","authenticated-orcid":false,"given":"M. S.","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Department of Child Neurology, Amsterdam Leukodystrophy Center, Amsterdam University Medical Center, Emma Children's Hospital, Amsterdam Neuroscience, Amsterdam, The Netherlands"},{"name":"Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,4,23]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/ana.410370308","article-title":"Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children","volume":"37","author":"M S van der Knaap","year":"1995","journal-title":"Ann Neurol"},{"issue":"11","key":"ref2","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/S1474-4422(12)70192-8","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis","volume":"11","author":"M S van der Knaap","year":"2012","journal-title":"Lancet Neurol"},{"issue":"04","key":"ref3","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/0887-8994(96)00048-3","article-title":"Megalencephalic leukodystrophy in an Asian Indian ethnic group","volume":"14","author":"B S Singhal","year":"1996","journal-title":"Pediatr Neurol"},{"issue":"03","key":"ref4","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0387-7604(98)00002-3","article-title":"Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases","volume":"20","author":"M Topcu","year":"1998","journal-title":"Brain Dev"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/s00439-002-0770-y","article-title":"Megalencephalic leukoencephalopathy with subcortical cysts; 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