Results 11 to 20 of about 2,627 (188)

Miglustat in Niemann-Pick disease type C patients: a review [PDF]

Orphanet Journal of Rare Diseases, 2018
Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations.
Mercè Pineda, Mark Walterfang, Marc C. Patterson   +2 more
doaj   +2 more sources

Stability of refrigerated miglustat after preparation in InOrpha® flavored suspending excipient for compounding of oral solutions and suspensions

Drug Design, Development and Therapy, 2015
Sofyen Riahi, Michael Ambühl, Jürgen Stichler, Dirk Bandilla Actelion Pharmaceuticals Ltd, Allschwil, Switzerland Background: Miglustat (Zavesca®) is an oral treatment for type 1 Gaucher disease and Niemann–Pick disease type C ...
Riahi S, Ambühl M, Stichler J, Bandilla D   +3 more
doaj   +1 more source

Anti-inflammatory effect of miglustat in bronchial epithelial cells [PDF]

Journal of Cystic Fibrosis, 2008
The role of CFTR deficiency in promoting inflammation remains unclear. Perez et al. [A. Perez, A.C. Issler, C.U. Cotton, T.J. Kelley, A.S. Verkman and P.B. Davis, CFTR inhibition mimics the cystic fibrosis inflammatory profile. Am J Physiol Lung Cell Mol Physiol 2007; 292:L383-L395.] recently demonstrated that the inhibition of function of w/t CFTR ...
Dechecchi MC, Nicolis E, Norez C, Bezzerri V, BORGATTI, Monica, MANCINI, Irene, Rizzotti P, Ribeiro CM, GAMBARI, Roberto, Becq F, Cabrini G.   +10 more
core   +5 more sources

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Orphanet Journal of Rare Diseases, 2018
Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes.
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron   +19 more
doaj   +2 more sources

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports [PDF]

Journal of Medical Case Reports, 2018
Background Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative.
Dominick Amato, Mary Anne Patterson
doaj   +2 more sources

Gastrointestinal disturbances and their management in miglustat‐treated patients

Journal of Inherited Metabolic Disease, 2011
AbstractMiglustat (Zavesca®) is approved for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy is unsuitable, and for the treatment of progressive neurological manifestations in adult and paediatric patients with Niemann‐Pick disease type C (NP‐C).
Belmatoug N, Burlina A, Giraldo P, Hendriksz CJ, Kuter DJ, Mengel E, Pastores GM   +6 more
openaire   +3 more sources

Dietary modifications in patients receiving miglustat

Journal of Inherited Metabolic Disease, 2010
AbstractWeight loss and gastrointestinal disturbances are often seen during miglustat therapy for lysosomal storage diseases. A retrospective analysis of data from a mixed group of patients treated with miglustat at two UK centres was performed to evaluate the effect of two different dietary interventions on body weight and gastrointestinal ...
Champion, H., Ramaswami, U., Imrie, J., Lachmann, R. H., Gallagher, J., Cox, T. M., Wraith, J. E.   +6 more
openaire   +4 more sources

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

Therapeutics and Clinical Risk Management, 2009
James E Wraith, Jackie ImrieWillink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UKAbstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive ...
James E Wraith, Jackie Imrie
doaj   +2 more sources

Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease

Pharmaceuticals, 2023
Pompe disease is a lysosomal storage disorder with impaired glycogen degradation caused by a deficiency of the enzyme acid α-glucosidase (GAA). Children with the severe infantile form do not survive beyond the first year of life without treatment.
Lina Fiege, Ibrahim Duran, Thorsten Marquardt   +2 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