A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome

Autor: Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Koenig MK, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T, De Vivo D

Publikováno v: Epilepsia
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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OBJECTIVE: This study was undertaken to evaluate efficacy and long-term safety of triheptanoin in patients >1 year old, not on a ketogenic diet, with drug-resistant seizures associated with glucose transporter 1 deficiency syndrome (Glut1DS). METHODS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f7c68189cbc105348106d3df5f0dc4c9
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21421

Impaired gastric emptying and small bowel transit in children with mitochondrial disorders.

Autor: Bhardwaj J, Wan DQ, Koenig MK, Liu Y, Hashmi SS, Rhoads JM, Bhardwaj, Jatinder, Wan, David Q, Koenig, Mary Kay, Liu, Yuying, Hashmi, Syed Shahrukh, Rhoads, Jon Marc

Publikováno v: Journal of Pediatric Gastroenterology & Nutrition; 2012 Aug, Vol. 55 Issue 2, p194-199, 6p

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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

Autor: Karaa A; Massachusetts General Hospital, Genetics Division Harvard Medical School Boston, Boston, MA, USA. AKARAA@mgh.harvard.edu., Bertini E; Neuromuscular Unit, Bambino Gesù Ospedale Pediatrico, IRCCS, Rome, Italy., Carelli V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Programma Di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Cohen B; Akron Children's Hospital, Rebecca D. Considine Research Institute, Akron, OH, USA., Ennes GM; Stanford University School of Medicine, Stanford, CA, USA., Falk MJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA., Goldstein A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA., Gorman G; Royal Victoria Infirmary, Newcastle Upon Tyne, England., Haas R; University of California, San Diego, La Jolla, CA, USA., Hirano M; Columbia University Irving Medical Center, New York, NY, USA., Klopstock T; Department of Neurology, LMU Hospital, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Koenig MK; Department of Pediatrics, Division of Child and Adolescent Neurology, Center for the Treatment of Pediatric Neurodegenerative Disease, University of Texas McGovern Medical School, Houston, TX, USA., Kornblum C; Department of Neurology, University Hospital of Bonn, Neuromuscular Diseases Section, Bonn, Germany., Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lehman A; Vancouver General Hospital, Vancouver, BC, Canada., Longo N; University of Utah, Salt Lake City, UT, USA., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Parikh S; Cleveland Clinic Neurological Institute, Cleveland, OH, USA., Phan H; Rare Disease Research, Atlanta, GA, USA., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Saneto R; Seattle Children's Hospital, Seattle, WA, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR, China., Servidei S; Fondazione Policlinico Universitario A. Gemelli and Istituto Di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, McMaster University Children's Hospital, Hamilton, ON, Canada., Toscano A; Department of Clinical and Experimental Medicine, ERN-NMD Center for Neuromuscular Disorders of Messina, University of Messina, Messina, Italy., Van Hove JLK; University of Colorado and Children's Hospital Colorado, Aurora, CO, USA., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vockley J; Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Finman JS; Jupiter Point Pharma Consulting, LLC, Jupiter, CT, USA., Abbruscato A; Stealth BioTherapeutics, Needham, MA, USA., Brown DA; Stealth BioTherapeutics, Needham, MA, USA., Sullivan A; Stealth BioTherapeutics, Needham, MA, USA., Shiffer JA; Write On Time Medical Communications, LLC, Medford, NJ, USA., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 21; Vol. 19 (1), pp. 431. Date of Electronic Publication: 2024 Nov 21.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Autor: Zielen S; Department of Pediatrics, Goethe University, Frankfurt, Germany., Crawford T; Department of Neurology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA., Benatti L; EryDel, Bresso, Italy., Magnani M; Department of Biomolecular Sciences, University of Urbino, Urbino, Italy., Kieslich M; Department of Pediatrics, Goethe University, Frankfurt, Germany., Ryan M; Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia., Meyts I; Department of Pediatrics, University Hospital Leuven, Leuven, Belgium., Gulati S; Department of Pediatrics, Centre of Excellence and Advanced Research for Childhood Neuro-developmental Disorders and Child Neurology Division, All India Institute of Medical Sciences, New Delhi, India., Borgohain R; Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India., Yadav R; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Pal P; Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India., Hegde A; Department of Neurology, Jaslok Hospital and Medical Research Center, Mumbai, India., Kumar S; Department of Neurology, Vijaya Hospital, Chennai, India., Venkateswar A; Department of Neurology, Vijaya Hospital, Chennai, India., Udani V; Pediatric Neurology, Hinduja National Hospital and Research Center, Mumbai, India., Vinayan KP; Pediatric Neurology, Amrita Institute of Medical Sciences, Kochi, India., Nissenkorn A; Children's Neurology Clinic, Sheba Medical Centre, Tel-Hashomer, School of Medicine, Tel Aviv University, Tel Aviv, Israel., Fazzi E; Child Neurology and Psychiatry Unit, Civil Hospital, and Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Leuzzi V; Department of Neurosciences and Mental Health, La Sapienza University, Rome, Italy., Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway., Pietrucha B; Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland., Pascual SI; Department of Pediatric Neurology, Hospital Universitario La Paz Madrid, Madrid, Spain., Gouider R; Neurology Department, Clinical Investigation Center 'Neurosciences and Mental Health', Razi Hospital, Tunis, Tunisia., Koenig MK; Department of Pediatrics, Division of Child and Adolescent Neurology, UT Health, McGovern Medical School, Houston, TX, USA., Wu S; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Perlman S; Department of Neurology, Ataxia Center, and Huntington's Disease Center of Excellence, University of California, Los Angeles, CA, USA., Thye D; Quince Therapeutics, South San Francisco, CA, USA., Janhofer G; EryDel, Bresso, Italy., Horn B; Quince Therapeutics, South San Francisco, CA, USA. Electronic address: bhorn@quincetx.com., Whitehouse W; Paediatric Neurology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust and School of Medicine University of Nottingham, Nottingham, UK., Lederman H; Division of Pediatric Allergy and Immunology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 Sep; Vol. 23 (9), pp. 871-882.