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The study summarizes an Externally-Led Patient-Focused Drug Development meeting where adult patients with ALD and/or caregivers, FDA representatives, and physicians discussed the lived impact of adult ALD. Findings highlight major concerns about balance, gait, spasticity, fear of worsening, and limited relief from existing symptom management, with strong interest in participation in treatment development and clinical trials.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/living-with-adrenoleukodystrophy-adult-patient-and-caregiver-perspectives/458628/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/living-with-adrenoleukodystrophy-adult-patient-and-caregiver-perspectives/458628.png","ImageObject",300,407,{"name":92,"@type":93},"McGucket","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-08","2026-09-30",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",11,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What is adrenoleukodystrophy (ALD) and what causes it?","Question",{"text":113,"@type":114},"ALD is a rare, X-linked disease caused by pathogenic ABCD1 gene variants. It leads to heterogeneous and debilitating clinical conditions affecting mainly the brain and spinal cord white matter and adrenal cortex.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"How were adult patients and caregivers involved in the study?",{"text":118,"@type":114},"Adult patients with ALD and/or caregivers were invited to an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting to discuss the impact of living with ALD and their desires for future treatment and management.",{"name":120,"@type":111,"acceptedAnswer":121},"What concerns and treatment experiences did participants report?",{"text":122,"@type":114},"Top concerns included balance issues, altered gait, and spasticity, along with significant impact on daily activities. 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Orphanet Journal of Rare Diseases (2026) 21:8  \n[https://doi.org/10.1186/s13023-025-04130-3](https://doi.org/10.1186/s13023-025-04130-3)  \nOrphanet Journal of Rare Diseases  \nRESEARCH Open Access  \nLiving with adrenoleukodystrophy: adult patient and caregiver perspectives  \nAmena Smith Fine 1,5*, Kathleen O’ Sullivan-Fortin2, Kelly Miettunen2, Felicity Emerson2, Reza Sadjadi3,4, Ali Fatemi 1,5 and Florian Eichler3,4  \nAbstract  \nIntroduction Adrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic ABCD1 gene variants, resulting in heterogeneous and debilitating conditions. We report on an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting involving patients and caregivers, Food and Drug Administration representatives, and physicians to hear the patient’s voice regarding living with adult manifestations of ALD.  \nMethods Adult patients with ALD and/or caregivers were invited to the EL-PFDD to discuss the impact of living with ALD and their desires for future treatment/management.  \nResults On July 22, 2022, the virtual EL-PFDD meeting took place with 254 individuals, including 153 adult patients with ALD and/or caregivers. Men and women with ALD suffer from many health conditions with top concerns being balance issues (81%), altered gait (67%), and spasticity (67%) . Disease impact on daily activities was significant; 69% had issues with walking, playing sports (45%), and sleeping (41%) . Overall, 88% of respondents feared their condition worsening, being unable to walk (61%), and developing cerebral ALD (39%) . There are no disease-specific treatments for adults; patients used various medications and physical therapies for symptom management, with either ‘very little’(39% respondents) or ‘somewhat’ (44% respondents) of a response; 10% received no relief with treatments. In the future, patients want to be involved in treatment development and clinical trials.  \nConclusion ALD is a progressive disease that can be life-limiting. There is an urgent need to develop treatments that will either slow, halt, or cure adult manifestations of ALD, and men and women are eager to be involved in studies. Keywords Adrenoleukodystrophy, Adrenomyeloneuropathy, Disease burden, Patient voice, Quality of life, Symptoms  \n*Correspondence: Amena Smith Fine  \n[FineA@kennedykrieger.org](FineA@kennedykrieger.org)  \n1Moser Center for Leukodystrophies, Department of Neurogenetics, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA  \n2ALD Connect, 35 Village Road Suite 100 35533, Middleton, MA 01949, USA  \n3Department of Neurology, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA  \n4Department of Neurology, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA  \n5School of Medicine, Department of Neurology, Johns Hopkins, 1800 Orleans St, Baltimore, MD 21287, USA  \nIntroduction  \nAdrenoleukodystrophy (ALD) is a rare, X-linked disease caused by pathogenic variants in the peroxisomalABCD1 gene, resulting in the accumulation of very long chain fatty acids in the plasma and tissues, primarily the brain and spinal cord white matter and adrenal cortex. To date, more than 1,240 unique variants have been identified in the ABCD1 gene but no genotype/phenotype correlation has been determined [1]. The estimated birth incidence of ALD is 1/14,700 [2] but the introduction of newborn screening suggests that the incidence of ALD could be higher [3].  \n© The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a cr","cbCairiHWB3ccfuw","https://ap.wps.com/l/cbCairiHWB3ccfuw","pdf",1770836,"English","# Abstract\n## Introduction\n## Methods\n## Results\n## Conclusion","[{\"question\":\"What is adrenoleukodystrophy (ALD) and what causes it?\",\"answer\":\"ALD is a rare, X-linked disease caused by pathogenic ABCD1 gene variants. It leads to heterogeneous and debilitating clinical conditions affecting mainly the brain and spinal cord white matter and adrenal cortex.\"},{\"question\":\"How were adult patients and caregivers involved in the study?\",\"answer\":\"Adult patients with ALD and/or caregivers were invited to an Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting to discuss the impact of living with ALD and their desires for future treatment and management.\"},{\"question\":\"What concerns and treatment experiences did participants report?\",\"answer\":\"Top concerns included balance issues, altered gait, and spasticity, along with significant impact on daily activities. There are no disease-specific treatments for adults, and respondents reported either very little or somewhat symptom relief, with some receiving no relief.\"}]","Living with adrenoleukodystrophy: adult patient and caregiver perspectives | PDF",1790753915,25]