{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T20:20:31Z","timestamp":1773346831845,"version":"3.50.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:00:00Z","timestamp":1711411200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by <jats:italic>SHANK3<\/jats:italic> haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The Externally Led Patient-Focused Drug Development (EL-PFDD) meeting was an opportunity for families affected by PMS to share with the Food and Drug Administration (FDA) how symptoms impact their lives and how treatments could be most meaningful. The Voice of the Patient report serves as a summary of this meeting to influence upcoming drug development and clinical trials. The purpose of this report is to provide a clinical perspective on the results of the EL-PFDD meeting to amplify the voice of these caregivers to the scientific community.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Caregivers prioritize an improved quality of life for their loved ones characterized by improved cognitive function, improved communication, increased independence, and reduced risk of regression. With these caregiver priorities in mind, this report provides the FDA and the scientific community with a clear understanding of which aspects of PMS should influence the development of future therapeutics.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03141-w","type":"journal-article","created":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T12:02:49Z","timestamp":1711454569000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome"],"prefix":"10.1186","volume":"19","author":[{"given":"Luciana","family":"Gizzo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geraldine","family":"Bliss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrystal","family":"Palaty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8129-2671","authenticated-orcid":false,"given":"Alexander","family":"Kolevzon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,26]]},"reference":[{"issue":"1","key":"3141_CR1","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/2040-2392-4-18","volume":"4","author":"L Soorya","year":"2013","unstructured":"Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, et al. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism. 2013;4(1):18.","journal-title":"Mol Autism"},{"key":"3141_CR2","volume-title":"GeneReviews(\u00ae)","author":"K Phelan","year":"1993","unstructured":"Phelan K, Rogers RC, Boccuto L, et al. Phelan-McDermid Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, et al., editors. GeneReviews(\u00ae). Seattle: University of Washington, Seattle Copyright \u00a9 1993-2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle; 1993. All rights reserved."},{"issue":"1","key":"3141_CR3","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s11689-020-9309-6","volume":"12","author":"TM Kohlenberg","year":"2020","unstructured":"Kohlenberg TM, Trelles MP, McLarney B, Betancur C, Thurm A, Kolevzon A. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. J Neurodev Disord. 2020;12(1):7.","journal-title":"J Neurodev Disord"},{"key":"3141_CR4","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1186\/s13229-019-0291-3","volume":"10","author":"A Kolevzon","year":"2019","unstructured":"Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019;10:50.","journal-title":"Mol Autism"},{"issue":"1","key":"3141_CR5","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng1933","volume":"39","author":"CM Durand","year":"2007","unstructured":"Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 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Hum Mol Genet. 2022;31(4):625\u201337.","journal-title":"Hum Mol Genet"},{"issue":"2","key":"3141_CR10","doi-asserted-by":"publisher","first-page":"zsw062","DOI":"10.1093\/sleep\/zsw062","volume":"40","author":"D Bro","year":"2017","unstructured":"Bro D, O\u2019Hara R, Primeau M, Hanson-Kahn A, Hallmayer J, Bernstein JA. Sleep disturbances in individuals with Phelan-McDermid Syndrome: correlation with caregivers\u2019 sleep quality and daytime functioning. Sleep. 2017;40(2):zsw062.","journal-title":"Sleep"},{"issue":"1","key":"3141_CR11","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1186\/2040-2392-5-54","volume":"5","author":"A Kolevzon","year":"2014","unstructured":"Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, et al. A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. 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They were informed at the time that some of their quotes, key insights and outcomes of the meeting would be published in a Voice of the Patient report.","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":"Alexander Kolevzon is on the Advisory Board for the Klingenstein Third Generation Foundation, Ovid Therapeutics, David Lynch Foundation, ADNP Kids Research Foundation, and Ritrova Therapeutics and consults to Acadia, Alkermes, CureSHANK, Jaguar Therapeutics, PYC Therapeutics, GW Pharmaceuticals, Neuren Pharmaceuticals, Clinilabs Drug Development Corporation, Scioto Biosciences, and Biogen.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"134"}}