Results 1 to 10 of about 1,901 (144)

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease [PDF]

Therapeutic Advances in Rare Disease
Late-onset Pompe disease (LOPD) is a rare inherited disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to an accumulation of lysosomal glycogen in tissues, profoundly affecting muscles.
Robert J. Hopkin, Barry J. Byrne, Mazen M. Dimachkie, Priya S. Kishnani, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Nadine A. M. E. van der Beek, Ans T. van der Ploeg, Stephan Wenninger, Jon Brudvig, Brian Fox, Fred Holdbrook, Vipul Jain, Franklin Johnson, Jennifer Zhang, Giancarlo Parenti   +16 more
doaj   +2 more sources

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation [PDF]

Neurology and Therapy
Importance Tangier disease (TD) is an ultra-rare disease, characterised by progressive peripheral neuropathy with no established treatment. Objectives To determine whether miglustat improved the clinical status of a single patient with TD, and to ...
Andrew Cook, Beth Stuart, Antonio Ochoa-Ferraro, Nicola Condon, Megan Lawrence, Fran Webley, Kerri-Lee Wallom, Claire Forbes, Vishy Veeranna, Subadra Wanninayake, Tom Oliver, Nicholas Davies, Charlotte Dawson, Frances Platt, Tarekegn Geberhiwot   +14 more
doaj   +2 more sources

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

Neurobiology of Disease, 2004
Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from ...
Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox, Frances M Platt   +9 more
doaj   +3 more sources

Clinical characteristics and treatment outcomes in patients with Niemann–Pick disease type C (NP-C): a cross-sectional study [PDF]

Orphanet Journal of Rare Diseases
Background Niemann–Pick disease type C (NP-C) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurodegeneration.
Parvaneh Karimzadeh, Farzad Ahmadabadi, Vahide Zeinali, Sharareh Kamfar, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Seyed Hassan Tonekaboni, Faezeh Ghanaati   +7 more
doaj   +2 more sources

Miglustat

Drugs, 2003
Miglustat is an orally administered ceramide glucosyltransferase inhibitor which prevents the lysosomal accumulation of glucocerebroside that occurs in patients with Gaucher's disease. In noncomparative trials in patients with type 1 Gaucher's disease, miglustat (50 or 100mg three times daily) for 6-12 months significantly reduced baseline liver and ...
Paul L, McCormack, Karen L, Goa
  +8 more sources

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Molecular Genetics and Metabolism Reports, 2021
Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder. Perinatal and early infantile onset NPC are the most severe types of the disease.
Shiri Curelaru, Yoav Zehavi, Tal Almagor, Ronen Spiegel   +3 more
doaj   +1 more source

The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study

Reproductive Biology and Endocrinology, 2007
Background A major event in the post-meiotic development of male germ cells is the formation of the acrosome. This process can be perturbed in C57BL/6 mice by administration of the small molecule miglustat (N-butyldeoxynojirimycin, NB-DNJ). The miglustat-
Boomkamp Stephanie, Gottwald Ulrich, Leifke Eckhard, Fritsch Martin, Voigtmann Ulrike, Walden Charlotte M, Bone Wilhelm, Platt Frances M, van der Spoel Aarnoud C   +8 more
doaj   +1 more source

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

Cells, 2022
CLN5 disease (MIM: 256731) represents a rare late-infantile form of neuronal ceroid lipofuscinosis (NCL), caused by mutations in the CLN5 gene that encodes the CLN5 protein (CLN5p), whose physiological roles stay unanswered.
Stefano Doccini, Maria Marchese, Federica Morani, Nicola Gammaldi, Serena Mero, Francesco Pezzini, Rabah Soliymani, Melissa Santi, Giovanni Signore, Asahi Ogi, Silvia Rocchiccioli, Katja M. Kanninen, Alessandro Simonati, Maciej M. Lalowski, Filippo M. Santorelli   +14 more
doaj   +1 more source

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

Haematologica, 2009
There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease.
Pilar Giraldo, Pilar Alfonso, Koldo Atutxa, María A. Fernández-Galán, Abelardo Barez, Rafael Franco, Dora Alonso, Alejandro Martin, Paz Latre, Miguel Pocovi   +9 more
doaj   +1 more source

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

Orphanet Journal of Rare Diseases, 2012
Background Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are
Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T   +13 more
doaj   +1 more source