{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T14:55:46Z","timestamp":1786460146743,"version":"build-2736575974"},"reference-count":24,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>The objective of this review is to synthesize the experiences of patients with metachromatic leukodystrophy (MLD), adrenoleukodystrophy (ALD), and Krabbe disease and the experiences of their family members.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>MLD, ALD, and Krabbe disease are rare disorders that are classified as lysosomal storage or peroxisomal disorders, with similar presentations as leukodystrophy. As these diseases cause cognitive and neurological decline due to the progression of leukodystrophy associated with demyelination, they have significant impact on the lives of patients and their families. It is important to identify the impact and challenges of these diseases on patients\u2019 lives and on their families, as well as to synthesize qualitative studies regarding their experiences.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Inclusion criteria:<\/jats:title>\n                    <jats:p>We will consider studies including patients with MLD, ALD, or Krabbe disease and their family members. These experiences will include the challenges, dissatisfactions, and frustrations with symptoms and treatments; complications of hematopoietic stem cell transplantation; and the increased caregiver burden with disease progression. This is important since the impacts of disease progression are experienced in a variety of settings beyond the hospital, such as in the community and at home.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>The search strategy will follow JBI methodology and be conducted in 3 steps: an initial limited search, a comprehensive database search, and a reference search of the included articles. MEDLINE, CINAHL Plus, PsycINFO, and Scopus will be searched with no restriction on language or publication dates. The study selection, critical appraisal, data extraction, and data synthesis will be performed according to JBI guidelines for systematic reviews of qualitative research. Final syntheses will be assessed using the ConQual approach.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Systematic review registration number:<\/jats:title>\n                    <jats:p>PROSPERO CRD42022318805.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.11124\/jbies-22-00154","type":"journal-article","created":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T09:25:32Z","timestamp":1669973132000},"page":"1027-1033","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Experiences of patients and their family members with metachromatic leukodystrophy, adrenoleukodystrophy, and Krabbe disease: a qualitative systematic review protocol"],"prefix":"10.11124","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4314-4955","authenticated-orcid":false,"given":"Yuta","family":"Koto","sequence":"first","affiliation":[{"name":"School of Nursing, Faculty of Health Science, Osaka Aoyama University, Osaka, Japan"},{"name":"The Japan Centre for Evidence Based Practice: A JBI Centre of Excellence, Osaka University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shingo","family":"Ueki","sequence":"additional","affiliation":[{"name":"The Japan Centre for Evidence Based Practice: A JBI Centre of Excellence, Osaka University, Osaka, Japan"},{"name":"Faculty of Medical Sciences, Department of Health Sciences, Kyushu University, Fukuoka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miyae","family":"Yamakawa","sequence":"additional","affiliation":[{"name":"The Japan Centre for Evidence Based Practice: A JBI Centre of Excellence, Osaka University, Osaka, Japan"},{"name":"Department of Evidence-Based Clinical Nursing, Division of Health Sciences, Graduate School of Medicine, Osaka University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[{"name":"Child Healthcare and Genetic Science Laboratory, Division of Health Science, Graduate School of Medicine, Osaka University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,5]]},"reference":[{"issue":"11","key":"R1-20250613","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1002\/jnr.23792","article-title":"Gene therapy for metachromatic leukodystrophy","volume":"94","author":"Rosenberg","year":"2016","journal-title":"J Neurosci Res"},{"key":"R2-20250613","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1750-1172-7-51","article-title":"X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management","volume":"7","author":"Engelen","year":"2012","journal-title":"Orphanet J Rare 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years\u2019 experience","volume":"18","author":"Orsini","year":"2016","journal-title":"Genet Med"},{"issue":"1","key":"R10-20250613","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/s13023-018-0766-x","article-title":"Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease","volume":"13","author":"Kwon","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"R11-20250613","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/jdn.10003","article-title":"X-linked adrenoleukodystrophy: pathology, pathophysiology, diagnostic testing, newborn screening and therapies","volume":"80","author":"Turk","year":"2020","journal-title":"Int J Dev Neurosci"},{"issue":"4","key":"R12-20250613","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bbmt.2013.01.010","article-title":"Neurodevelopmental outcomes of umbilical cord blood transplantation in metachromatic leukodystrophy","volume":"19","author":"Martin","year":"2013","journal-title":"Biol Blood Marrow Transplant"},{"issue":"13","key":"R13-20250613","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1177\/0883073816656401","article-title":"Metachromatic leukodystrophy: an assessment of disease burden","volume":"31","author":"Eichler","year":"2016","journal-title":"J Child Neurol"},{"issue":"1","key":"R14-20250613","first-page":"47","article-title":"Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy","volume":"47","author":"Langan","year":"2019","journal-title":"JIMD Rep"},{"issue":"1","key":"R15-20250613","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1186\/s13023-021-01828-y","article-title":"The impact of severe rare chronic neurological disease in childhood on the quality of life of families-a study on MLD and PCH2","volume":"16","author":"Ammann-Schnell","year":"2021","journal-title":"Orphanet J Rare 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