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While extensive efforts have been undertaken to understand CLN3 disease etiology, pathology, and clinical progression, little is known about the impact of CLN3 disease on parents and caregivers. Here, we investigated CLN3 disease progression, clinical care, and family experiences using semi-structured interviews with 39 parents of individuals with CLN3 disease. Analysis included response categorization by independent observers and quantitative methods.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Parents reported patterns of disease progression that aligned with previous reports. Insomnia and thought- and mood-related concerns were reported frequently. \u201cDecline in visual acuity\u201d was the first sign\/symptom noticed by\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200928 parents (70%). A minority of parents reported \u201cbehavioral issues\u201d (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095, 12.5%), \u201ccommunication issues\u201d (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093, 7.5%), \u201ccognitive decline\u201d (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091, 2.5%), or \u201cseizures\u201d (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20091, 2.5%) as the first sign\/symptom. The mean time from the first signs or symptoms to a diagnosis of CLN3 disease was 2.8 years (SD\u2009=\u20094.1). Misdiagnosis was common, being reported by\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200924 participants (55.8%). Diagnostic tests and treatments were closely aligned with observed symptoms. Desires for improved or stabilized vision (top therapeutic treatment concern for\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200914, 32.6%), cognition (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20098, 18.6%), and mobility (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093, 7%) dominated parental concerns and wishes for therapeutic correction. Family impacts were common, with\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200934 (81%) of respondents reporting a financial impact on the family and\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200920 (46.5%) reporting marital strain related to the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Collectively, responses demonstrated clear patterns of disease progression, a strong desire for therapies to treat symptoms related to vision and cognition, and a powerful family impact driven by the unrelenting nature of disease progression.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03119-8","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T13:36:28Z","timestamp":1710768988000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["The parent and family impact of CLN3 disease: an observational survey-based study"],"prefix":"10.1186","volume":"19","author":[{"given":"Angela","family":"Schulz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5377-6482","authenticated-orcid":false,"given":"Nita","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon J.","family":"Brudvig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Stehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill M.","family":"Weimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika F.","family":"Augustine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"issue":"2","key":"3119_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/S0387-7604(88)80075-5","volume":"10","author":"P Santavuori","year":"1988","unstructured":"Santavuori P. 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All participants provided written informed consent prior to participating in the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"N.P., J.J.B., and J.M.W. are employees of Amicus Therapeutics, a company that develops therapies for rare diseases including CLN3 disease.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"125"}}