Transport®NPC: open phase 3 global trial of intravenous hydroxypropyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)

被引：0

作者：

Hastings, Caroline A. ^{[1
]}

Goker-Alpan, Ozlem ^{[2
]}

Pena, Loren ^{[3
]}

Bayarri, Jordi Gascon ^{[4
]}

Martin-Hernandez, Elena ^{[5
]}

Sharma, Reena ^{[6
]}

Chacham, Orna Staretz ^{[7
]}

Spiegel, Ronen ^{[8
]}

Mengel, Eugen ^{[9
]}

Walterfang, Mark ^{[10
]}

Peters, Heidi ^{[11
]}

Fung, Victor S. ^{[12
]}

Kiec-Wilk, Beata ^{[13
]}

Smith, Nicholas ^{[14
]}

Giugliani, Roberto ^{[15
]}

Guelbert, Norberto ^{[16
]}

Ezgu, Fatih ^{[17
]}

Ucar, Sema Kalkan ^{[18
]}

Murray, Bryan J. ^{[19
]}

Brecht, Andreas F. ^{[20
]}

Mejia, Joseph ^{[21
]}

机构：

[1] UCSF Benioff Childrens Hosp Oakland, Oakland, CA USA

[2] Lysosomal Rare Disorders Res & Treatment Ctr Inc, Fairfax, VA USA

[3] Cincinnati Childrens Hosp, Med Ctr, Cincinnati, OH USA

[4] Bellvitge Univ Hosp, Barcelona, Spain

[5] Hosp Univ 12 Octubre, Madrid, Spain

[6] Salford Royal Hosp NHS Fdn Trust, Salford, Lancs, England

[7] Ben Gurion Univ Negev, Beer Sheva, Israel

[8] Emek Med Ctr, Afula, Israel

[9] SpinCS GmbH, Hochheim, Germany

[10] Royal Melbourne Hosp, Melbourne, Australia

[11] Royal Childrens Hosp, Melbourne, Australia

[12] Westmead Hosp, Westmead, NSW, Australia

[13] Szpital Uniwersytecki Krakowie, Krakow, Poland

[14] Womens & Childrens Hlth Network, Adelaide, SA, Australia

[15] Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil

[16] Hosp Ninos Cordoba, Buenos Aires, Argentina

[17] Gazi Univ, Ankara, Turkiye

[18] Ege Univ, Med Sch, Irmir, Turkiye

[19] Boyd Consultants, St Neots, England

[20] Cyclo Therapeut Ltd, Hemmiken, Switzerland

[21] Cyclo Therapeut, Gainesville, FL USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 02期

关键词：

D O I：

10.1016/j.ymgme.2023.107875

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

136

引用

页数：2

共 50 条

[41] Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects
Maximilian J. Feldman
Brenton C. Poirier
B. Markus Lange
Planta, 2015, 242 : 921 - 933
[42] Misexpression of the Niemann-Pick disease type C1 (NPC1)-like protein in Arabidopsis causes sphingolipid accumulation and reproductive defects
Feldman, Maximilian J.
Poirier, Brenton C.
Lange, B. Markus
PLANTA, 2015, 242 (04) : 921 - 933
[43] Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition
Sorrentino, Federica
Arighi, Andrea
Serpente, Maria
Arosio, Beatrice
Arcaro, Marina
Visconte, Caterina
Rotondo, Emanuela
Vimercati, Roberto
Ferri, Evelyn
Fumagalli, Giorgio G.
Pietroboni, Anna M.
Carandini, Tiziana
Scarpini, Elio
Fenoglio, Chiara
Galimberti, Daniela
JOURNAL OF ALZHEIMERS DISEASE, 2021, 83 (03) : 1313 - 1323
[44] Hydroxypropyl-beta cyclodextrin in Niemann-Pick type C disease
Valle Diaz De La Guardia, Ana Maria M.
Gonzalez Medina, Maria del Carmen
Romero, Rocio Moron
Fuentes, Salvador Ruiz
Barrera, Jose Cabeza
INTERNATIONAL JOURNAL OF CLINICAL PHARMACY, 2015, 37 (01) : 282 - 282
[45] Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
Márcia Polese-Bonatto
Hugo Bock
Ana Carolina S. Farias
Rafaella Mergener
Maria Cristina Matte
Mirela S. Gil
Felipe Nepomuceno
Fernanda T. S. Souza
Rejane Gus
Roberto Giugliani
Maria Luiza Saraiva-Pereira
Molecular Neurobiology, 2019, 56 : 6426 - 6435
[46] Niemann-Pick type C disease:: Novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency
Tamura, H
Takahashi, T
Ban, N
Torisu, H
Ninomiya, H
Takada, G
Inagaki, N
MOLECULAR GENETICS AND METABOLISM, 2006, 87 (02) : 113 - 121
[47] Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene
Polese-Bonatto, Marcia
Bock, Hugo
Farias, Ana Carolina S.
Mergener, Rafaella
Matte, Maria Cristina
Gil, Mirela S.
Nepomuceno, Felipe
Souza, Fernanda T. S.
Gus, Rejane
Giugliani, Roberto
Saraiva-Pereira, Maria Luiza
MOLECULAR NEUROBIOLOGY, 2019, 56 (09) : 6426 - 6435
[48] A qHTS campaign to find compounds that upregulate endogenous NPC1 protein as an attractive therapeutic strategy to Niemann-Pick disease type C (NPC)
King, Rebecca
MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S61 - S61
[49] A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1
Reynolds, Margaret
Linneman, Laura A.
Luna, Sofia
Warner, Barbara B.
Turmelle, Yumirle P.
Kulkarni, Sakil S.
Jiang, Xuntian
Khanna, Geetika
Shinawi, Marwan
Porter, Forbes D.
Ory, Daniel S.
Cole, F. Sessions
Dickson, Patricia, I
MOLECULAR GENETICS AND METABOLISM REPORTS, 2021, 28
[50] Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress
Lee, Dongun
Hong, Jeong Hee
ANTIOXIDANTS, 2023, 12 (12)

← 1 2 3 4 5 →