Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data.

Autor: Specchio N; Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Gissen P; NIHR Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., de Los Reyes E; Department of Pediatric Neurology, Nationwide Children's Hospital, Columbus, Ohio, United States of America., Olaye A; BioMarin Europe Ltd, London, United Kingdom., Camp C; BioMarin Europe Ltd, London, United Kingdom., Curteis T; Costello Medical, Manchester, United Kingdom., Griffiths A; Costello Medical, Cambridge, United Kingdom., Butt T; BioMarin Europe Ltd, London, United Kingdom., Cohen-Pfeffer J; BioMarin Pharmaceutical Inc., Novato, California, United States of America., Slasor P; BioMarin Pharmaceutical Inc., Novato, California, United States of America., Sisic Z; BioMarin Europe Ltd, London, United Kingdom., Jain M; BioMarin Europe Ltd, London, United Kingdom., Schulz A; Department of Pediatrics, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Publikováno v: PloS one [PLoS One] 2024 May 22; Vol. 19 (5), pp. e0302382. Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).

Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.

Autor: Schulz A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: anschulz@uke.de., Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., de Los Reyes E; Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH, USA., Gissen P; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Aylward SC; Department of Pediatrics and Neurology, The Ohio State University, Nationwide Children's Hospital, Columbus, OH, USA., Chakrapani A; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Schwering C; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Wibbeler E; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Westermann LM; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Ballon DJ; Citigroup Biomedical Imaging Center, Weill Cornell Medical College, New York, NY, USA., Dyke JP; Citigroup Biomedical Imaging Center, Weill Cornell Medical College, New York, NY, USA., Cherukuri A; Department of Translational Sciences, BioMarin Pharmaceutical, Novato, CA, USA., Bondade S; Drug Safety Surveillance, BioMarin Pharmaceutical, Novato, CA, USA., Slasor P; Statistical Science, BioMarin Pharmaceutical, Novato, CA, USA., Cohen Pfeffer J; Department of Clinical Sciences, BioMarin Pharmaceutical, Novato, CA, USA.

Publikováno v: The Lancet. Neurology [Lancet Neurol] 2024 Jan; Vol. 23 (1), pp. 60-70.

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.

Autor: Leal-Pardinas F; BioMarin Pharmaceutical, Inc, Novato, California, USA., Truty R; Invitae, San Francisco, California, USA., McKnight DA; Invitae, San Francisco, California, USA., Johnson B; Invitae, San Francisco, California, USA., Morales A; Invitae, San Francisco, California, USA., Bristow SL; Invitae, San Francisco, California, USA., Yar Pang T; BioMarin Pharmaceutical, Inc, Novato, California, USA., Cohen-Pfeffer J; BioMarin Pharmaceutical, Inc, Novato, California, USA., Izzo E; BioMarin Pharmaceutical, Inc, Novato, California, USA., Sankar R; David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, California, USA., Koh S; University of Nebraska Medical Center, Omaha, Nebraska, USA., Wirrell EC; Mayo Clinic, Rochester, Minnesota, USA., Millichap JJ; Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Aradhya S; Invitae, San Francisco, California, USA.

Publikováno v: Epilepsia [Epilepsia] 2022 Jul; Vol. 63 (7), pp. e68-e73. Date of Electronic Publication: 2022 May 10.

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Adverse Reactions to the Orphan Drug Cerliponase Alfa in the Treatment of Neurolipofuscinosis Type 2 (CLN2).

Autor: Ammendolia, Ilaria^1,2 (AUTHOR) emanuela.esposito@unime.it, Sframeli, Maria¹ (AUTHOR) maria.sframeli@polime.it, Esposito, Emanuela² (AUTHOR) gioacchino.calapai@unime.it, Cardia, Luigi³ (AUTHOR) alberto.noto@unime.it, Noto, Alberto³ (AUTHOR) maria.depasquale@unime.it, Currò, Mariaconcetta¹ (AUTHOR) mariaconcetta.curro@unime.it, Calapai, Gioacchino² (AUTHOR) carmen.mannucci@unime.it, De Pasquale, Maria³ (AUTHOR), Mannucci, Carmen² (AUTHOR), Calapai, Fabrizio^1,4 (AUTHOR) fabrizio.calapai@unime.it

Publikováno v: Pharmaceuticals (14248247). Nov2024, Vol. 17 Issue 11, p1513. 11p.