Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis.

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Title: Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis.
Authors: Lynch M; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia; Department of Paediatrics, Wesley Medical Research, Auchenflower Brisbane, QLD, 4066, Australia; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Saint Lucia Brisbane, QLD, 4067, Australia., Manoy S; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia., Sly PD; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia., Wainwright CE; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Wolvetang E; Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Saint Lucia Brisbane, QLD, 4067, Australia., Feenstra JE; Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; Department of Adult Respiratory and Sleep Medicine, Wesley Medical Research, Auchenflower Brisbane, QLD, 4066, Australia., Dowling J; Australian e-Health Research Centre, CSIRO, Herston, Brisbane, QLD, 4006, Australia., Ware RS; School of Medicine and Dentistry, Griffith University, Gold Coast, 4222, Australia; Griffith Biostatistics Unit, Griffith University, Nathan Campus, Brisbane, QLD, 4111, Australia., Patel MS; Griffith Biostatistics Unit, Griffith University, Nathan Campus, Brisbane, QLD, 4111, Australia., Hermith-Ramirez D; Griffith Biostatistics Unit, Griffith University, Nathan Campus, Brisbane, QLD, 4111, Australia., Vogel A; School of Health Sciences, The University of Melbourne, Parkville, Melbourne, 3010, Australia; Redenlab Inc., Melbourne 3000, Australia., Preece K; Department of Immunology and Allergy, John Hunter Children's Hospital, New Lambton Heights, Newcastle, NSW, 2305, Australia., Zappala T; Department of Paediatrics and Dermatology, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Dai S; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; Department of Ophthalmology, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Webber A; Department of Ophthalmology, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Yeo A; University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Herston Brisbane, QLD, 4029, Australia., Subramanian G; Department of Gastroenterology and Hepatology, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Rao G; Human Immune Disorders Laboratory, Garvan Institute of Medical Research, NSW, 2010, Australia., Ma CS; Human Immune Disorders Laboratory, Garvan Institute of Medical Research, NSW, 2010, Australia; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, NSW, Australia., Jose S; University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Herston Brisbane, QLD, 4029, Australia., Gatei M; Department of Gastroenterology and Hepatology, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Xin B; Australian e-Health Research Centre, CSIRO, Herston, Brisbane, QLD, 4006, Australia., Sandona N; Department of Paediatrics, Wesley Medical Research, Auchenflower Brisbane, QLD, 4066, Australia., Lewindon P; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; Department of Gastroenterology and Hepatology, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Sinclair KG; Department of Paediatrics, Wesley Medical Research, Auchenflower Brisbane, QLD, 4066, Australia; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; Neurosciences Department, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia., Nayler S; QIMR-Berghofer Research Institute, QLD, 4006, Australia., Lavin MF; University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Herston Brisbane, QLD, 4029, Australia., Coman DJ; Department of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, QLD, 4101, Australia; Department of Paediatrics, Wesley Medical Research, Auchenflower Brisbane, QLD, 4066, Australia; Child Health Research Centre, Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia; School of Medicine and Dentistry, Griffith University, Gold Coast, 4222, Australia; Faculty of Medicine, University of Queensland, South Brisbane, QLD, 4101, Australia. Electronic address: david.coman@health.qld.gov.au.
Source: EBioMedicine [EBioMedicine] 2025 Aug; Vol. 118, pp. 105840. Date of Electronic Publication: 2025 Jul 04.
Publication Type: Journal Article; Clinical Trial, Phase II; Randomized Controlled Trial
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2352-3964
DOI:10.1016/j.ebiom.2025.105840