{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T09:30:23Z","timestamp":1769074223981,"version":"3.49.0"},"reference-count":30,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100008731","name":"Association Europ\u00e9enne contre les Leucodystrophies","doi-asserted-by":"publisher","award":["ELA 2020-P005"],"award-info":[{"award-number":["ELA 2020-P005"]}],"id":[{"id":"10.13039\/501100008731","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Ther Adv Neurol Disord"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>People with rare diseases (RDs) often require intensive multidisciplinary care in disease-specific centers of excellence (CoE). However, access is limited for most patients living remotely. X-linked adrenoleukodystrophy (X-ALD) is a genetic RD leading to demyelination of the central and peripheral nervous system.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Objectives:<\/jats:title>\n            <jats:p>This randomized-controlled trial tested the feasibility, acceptance, and effectiveness of a multidisciplinary online intervention provided by a CoE on the quality of life (QoL) and well-being of symptomatic women with X-ALD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Design:<\/jats:title>\n            <jats:p>Single-center, randomized-controlled clinical trial involving 68 German-speaking women with symptomatic X-ALD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>\n              Participants were randomized into an experimental group (EG,\n              <jats:italic>n<\/jats:italic>\n              \u2009=\u200934) receiving 12-month online intervention SMART-ALD and a waiting-list control group (WL-CG,\n              <jats:italic>n<\/jats:italic>\n              \u2009=\u200934) receiving 6-month SMART-ALD after a 6-month waiting period. Within SMART-ALD, participants were offered regular web-based neurological, social, psychological, and nutritional counseling and fitness training provided by the Leukodystrophy Outpatient Clinic at Leipzig, Germany. Group, time, and interaction effects on primary (self-reported QoL) and secondary (physical and mental health) outcomes after 6-month SMART-ALD were tested by repeated measures ANOVAs.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>\n              One WL-CG participant dropped out after the waiting period and was excluded from the final analysis. Significant QoL improvements in the EG versus WL-CG were found on self-reported mental health (mean difference (MD): 5.4, 95% confidence interval (CI) (2.8, 13.6),\n              <jats:italic>p<\/jats:italic>\n              \u2009=\u20090.020, \u03b7\n              <jats:sup>2<\/jats:sup>\n              \u2009=\u20090.08) and vitality (MD: 8.8, 95% CI (0.1, 17.4),\n              <jats:italic>p<\/jats:italic>\n              \u2009=\u20090.002, \u03b7\n              <jats:sup>2<\/jats:sup>\n              \u2009=\u20090.14). Further significant interaction effects emerged for improved knowledge about nutrition (MD: 0.4, 95% CI (\u22120.7, 1.4),\n              <jats:italic>p<\/jats:italic>\n              \u2009=\u20090.002, \u03b7\n              <jats:sup>2<\/jats:sup>\n              \u2009=\u20090.15), socio-medical benefits (MD: 1.8, 95% CI (0.5, 3.0),\n              <jats:italic>p<\/jats:italic>\n              \u2009=\u20090.033, \u03b7\n              <jats:sup>2<\/jats:sup>\n              \u2009=\u20090.07), and intense physical activity (MD: 2.2, 95% CI (\u22123.9, 8.4),\n              <jats:italic>p<\/jats:italic>\n              \u2009=\u20090.024, \u03b7\n              <jats:sup>2<\/jats:sup>\n              \u2009=\u20090.10).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>The study shows that easily accessible, multidisciplinary online interventions provided by the CoE have the potential to improve the QoL in people with RDs by providing regular access to specialized care.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Trial registration:<\/jats:title>\n            <jats:p>\n              This study was registered on ClinicalTrials.gov (\n              <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/clinicaltrials.gov\/study\/NCT04687007\">https:\/\/clinicaltrials.gov\/study\/NCT04687007<\/jats:ext-link>\n              ).\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1177\/17562864251376109","type":"journal-article","created":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T12:57:39Z","timestamp":1759064259000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Improving quality of life in rare diseases using disease-specific, multidisciplinary online interventions on the example of rare X-linked adrenoleukodystrophy: a randomized-controlled trial"],"prefix":"10.1177","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9714-9682","authenticated-orcid":false,"given":"Lisa","family":"Sch\u00e4fer","sequence":"first","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Liebigstrasse 20a, Leipzig 04103, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid","family":"Unterlauft","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brit","family":"Froebrich-Andre\u00df","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolin","family":"Wollny","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"R\u00f6\u00dfler","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronja","family":"Fischer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"B\u00e4hr","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8454-9425","authenticated-orcid":false,"given":"Julia","family":"Lier","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel T.","family":"Wasmus","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0327-1389","authenticated-orcid":false,"given":"Christa-Caroline","family":"Bergner","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6058-9545","authenticated-orcid":false,"given":"Wolfgang","family":"K\u00f6hler","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Leipzig, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,9,28]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0508-0"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2022.1028545"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.lanepe.2023.100783"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000201374"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.175"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt361"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.2878"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000213370"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.20517\/rdodj.2022.13"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200192"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-021-02270-6"},{"issue":"3","key":"e_1_3_4_13_2","first-page":"247","article-title":"A new disease-specific scoring system for adult phenotypes of X-linked adrenoleukosytrophy","volume":"13","author":"K\u00f6hler W","year":"1999","unstructured":"K\u00f6hler W, Sokolowski P. A new disease-specific scoring system for adult phenotypes of X-linked adrenoleukosytrophy. J Mol Neurosci 1999; 13(3): 247\u2013252.","journal-title":"J Mol Neurosci"},{"key":"e_1_3_4_14_2","volume-title":"SF-36 health survey. Manual and interpretation guide","author":"Ware JE","year":"1993","unstructured":"Ware JE, Snow KK, Kosinski M, et al. SF-36 health survey. Manual and interpretation guide. Boston: Nisural Press, 1993."},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2003.12.027"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0165-1781(89)90047-4"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.msard.2020.102576"},{"key":"e_1_3_4_18_2","volume-title":"Manual for the Beck Depression Inventory-II","author":"Beck AT","year":"1996","unstructured":"Beck AT, Steer RA, Brown GK. Manual for the Beck Depression Inventory-II. San Antonio, TX: Psychological Corporation, 1996."},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-0597.1997.tb01096.x"},{"key":"e_1_3_4_20_2","unstructured":"Leukohero\u2014Multisensorisches Fitnesstraining. SMART: Leukoheros-Nanohelden [Video]. YouTube https:\/\/www.youtube.com\/watch?v=kWD6bFnXXo4 (2022 06 July)."},{"key":"e_1_3_4_21_2","unstructured":"Cohen J. Statistical power analysis for the behavioral sciences. 2nd ed. Hillsdale NJ: Erlbaum 1988."},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1186\/s41687-021-00336-8"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.1177\/1357633X19840097"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1186\/s44247-024-00078-9"},{"issue":"5","key":"e_1_3_4_25_2","first-page":"375","article-title":"Waiting times for outpatient treatment in Germany: new experimental evidence from primary data","volume":"238","author":"Heinrich N","year":"2018","unstructured":"Heinrich N, W\u00fcbker A, Wuckel C. Waiting times for outpatient treatment in Germany: new experimental evidence from primary data. Jahr Natl Stat 2018; 238(5): 375\u2013394.","journal-title":"Jahr Natl Stat"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.684102"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12753"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.900792"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12457"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.02.040"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01907-0"}],"container-title":["Therapeutic Advances in Neurological Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/17562864251376109","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/17562864251376109","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/17562864251376109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T19:17:00Z","timestamp":1759346220000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/17562864251376109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":30,"alternative-id":["10.1177\/17562864251376109"],"URL":"https:\/\/doi.org\/10.1177\/17562864251376109","relation":{},"ISSN":["1756-2864","1756-2864"],"issn-type":[{"value":"1756-2864","type":"print"},{"value":"1756-2864","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"article-number":"17562864251376109"}}