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NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.
Linnemann, Christoph; Wilke, Carlo; Mengel, David; Zetterberg, Henrik; Heller, Carolin; Kuhle, Jens; Bouzigues, Arabella; Russell, Lucy L; Foster, Phoebe H; Ferry-Bolder, Eve; Van Swieten, John Cornelis; Jiskoot, Lize C; Seelaar, Harro; Moreno, Fermin; Borroni, Barbara; Sánchez-Valle, Raquel; Galimberti, Daniela; Laforce, Robert; Graff, Caroline; Masellis, Mario; Tartaglia, Maria Carmela; Rowe, James Benedict; Finger, Elizabeth; Vandenberghe, Rik; de Mendonca, Alexandre; Butler, Chris R; Gerhard, Alexander; Ducharme, Simon; Ber, Isabelle L E; Tiraboschi, Pietro; Santana, Isabel; Pasquier, Florence; Levin, Johannes; Otto, Markus; Sorbi, Sandro; Rohrer, Jonathan Daniel; Synofzik, Matthis.
Afiliación
  • Linnemann C; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany matthis.synofzik@uni-tuebingen.de christoph.linnemann@upk.ch.
  • Wilke C; Center of Old Age Psychiatry, Psychiatric University Hospital (UPK), University of Basel, Basel, Switzerland.
  • Mengel D; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Zetterberg H; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Heller C; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
  • Kuhle J; Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Bouzigues A; UK Dementia Research Institute at UCL, London, UK.
  • Russell LL; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.
  • Foster PH; UK Dementia Research Institute at UCL, London, UK.
  • Ferry-Bolder E; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Van Swieten JC; Neurologic Clinic and Policlinic, MS Center and Research Center for Clinical Neuroimmunology and Neuroscience Basel (RC2NB), University Hospital Basel, University of Basel, Basel, Switzerland.
  • Jiskoot LC; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Seelaar H; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Moreno F; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Borroni B; Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK.
  • Sánchez-Valle R; Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Galimberti D; Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Laforce R; Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.
  • Graff C; Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain.
  • Masellis M; Biodonostia Health Research Institute, Neuroscience Area, San Sebastian, Spain.
  • Tartaglia MC; Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
  • Rowe JB; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.
  • Finger E; IRCCS Ospedale Policlinico, Fondazione Ca' Granda, Milan, Italy.
  • Vandenberghe R; Centro Dino Ferrari, University of Milan, Milan, Italy.
  • de Mendonca A; Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Québec, Alberta, Canada.
  • Butler CR; Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden.
  • Gerhard A; Unit for Hereditary Dementias, Theme Aging, Karolinska University Hospital, Solna, Sweden.
  • Ducharme S; Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada.
  • Ber ILE; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
  • Tiraboschi P; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
  • Santana I; Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario, Canada.
  • Pasquier F; Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
  • Levin J; Neurology Service, University Hospitals Leuven, Leuven, Belgium.
  • Otto M; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
  • Sorbi S; Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
  • Rohrer JD; Department of Brain Sciences, Imperial College, London, UK.
  • Synofzik M; Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
J Neurol Neurosurg Psychiatry ; 2024 Feb 01.
Article en En | MEDLINE | ID: mdl-38253362
ABSTRACT

BACKGROUND:

Blood neurofilament light chain (NfL) is increasingly considered as a key trial biomarker in genetic frontotemporal dementia (gFTD). We aimed to facilitate the use of NfL in gFTD multicentre trials by testing its (1) reliability across labs; (2) reliability to stratify gFTD disease stages; (3) comparability between blood matrices and (4) stability across recruiting sites.

METHODS:

Comparative analysis of blood NfL levels in a large gFTD cohort (GENFI) for (1)-(4), with n=344 samples (n=148 presymptomatic, n=11 converter, n=46 symptomatic subjects, with mutations in C9orf72, GRN or MAPT; and n=139 within-family controls), each measured in three different international labs by Simoa HD-1 analyzer.

RESULTS:

NfL revealed an excellent consistency (intraclass correlation coefficient (ICC) 0.964) and high reliability across the three labs (maximal bias (pg/mL) in Bland-Altman

analysis:

1.12±1.20). High concordance of NfL across laboratories was moreover reflected by high areas under the curve for discriminating conversion stage against the (non-converting) presymptomatic stage across all three labs. Serum and plasma NfL were largely comparable (ICC 0.967). The robustness of NfL across 13 recruiting sites was demonstrated by a linear mixed effect model.

CONCLUSIONS:

Our results underline the suitability of blood NfL in gFTD multicentre trials, including cross-lab reliable stratification of the highly trial-relevant conversion stage, matrix comparability and cross-site robustness.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2024 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Neurol Neurosurg Psychiatry Año: 2024 Tipo del documento: Article