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35 results

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Page 1
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high unmet medical need. ...
Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high unmet medical need. ...
Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. Patterson MC, et al. Neurology. 2025 Jul;105(1):e213589. doi: 10.1212/WNL.0000000000213589. Epub 2025 Jun 13. Neurology. 2025. PMID: 40513057 Free PMC article. Clinical Trial.
BACKGROUND AND OBJECTIVES: N-acetyl-l-leucine (NALL) has been established to improve the neurologic manifestations of Niemann-Pick disease type C (NPC) after 12 weeks in a placebo-controlled trial. In the open-label extension phase (EP) follow-up, data were obtained …
BACKGROUND AND OBJECTIVES: N-acetyl-l-leucine (NALL) has been established to improve the neurologic manifestations of Niemann-Pick …
Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Bremova-Ertl T, et al. J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13. J Neurol. 2022. PMID: 34387740 Free PMC article. Clinical Trial.
OBJECTIVE: To investigate the safety and efficacy of N-acetyl-L-leucine (NALL) on symptoms, functioning, and quality of life in pediatric ( 6 years) and adult Niemann-Pick disease type C (NPC) patients. METHODS: In this multi-national, open-label, rater-blinded Pha …
OBJECTIVE: To investigate the safety and efficacy of N-acetyl-L-leucine (NALL) on symptoms, functioning, and quality of life in pediatric ( …
Niemann-Pick disease, type C and Roscoe Brady.
Patterson MC, Walkley SU. Patterson MC, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):34-37. doi: 10.1016/j.ymgme.2016.11.008. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27923544 Review.
The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in the 1960s. ...These led initially to identification of the cholesterol trafficking defect in the mouse, and then in human Niemann- …
The Niemann-Pick family of diseases was poorly understood until Roscoe Brady and his colleagues began their investigations in …
Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC. Pineda M, et al. Orphanet J Rare Dis. 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. Orphanet J Rare Dis. 2018. PMID: 30111334 Free PMC article. Review.
OBJECTIVE: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. ...
OBJECTIVE: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide …
N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M. Fields T, et al. Trials. 2023 May 29;24(1):361. doi: 10.1186/s13063-023-07399-6. Trials. 2023. PMID: 37248494 Free PMC article. Clinical Trial.
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. ...
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized …
Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.
Patterson MC, Lloyd-Price L, Guldberg C, Doll H, Burbridge C, Chladek M, íDali C, Mengel E, Symonds T. Patterson MC, et al. Orphanet J Rare Dis. 2021 Feb 12;16(1):79. doi: 10.1186/s13023-021-01719-2. Orphanet J Rare Dis. 2021. PMID: 33579322 Free PMC article.
BACKGROUND: Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal function and neurodegeneration causing serious morbidity and shortened life expectancy. The Niemann-Pick type C Clinical Severity …
BACKGROUND: Niemann-Pick disease type C (NPC) is an ultra-rare, progressive, genetic disease leading to impaired lysosomal fun …
Long-term miglustat therapy in children with Niemann-Pick disease type C.
Patterson MC, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Wraith JE. Patterson MC, et al. J Child Neurol. 2010 Mar;25(3):300-5. doi: 10.1177/0883073809344222. Epub 2009 Oct 12. J Child Neurol. 2010. PMID: 19822772 Clinical Trial.
Niemann-Pick disease type C is a rare, genetic disease associated with impaired intracellular lipid trafficking and progressive neurological symptoms. Miglustat slowed disease progression in a 12-month randomized trial in juveniles and adults with Niemann- …
Niemann-Pick disease type C is a rare, genetic disease associated with impaired intracellular lipid trafficking and progressiv …
35 results