Results 41 to 50 of about 3,855 (201)

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

The development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases

Journal of Lipid Research, 2014
Glycosphingolipid (GSL) storage diseases have been the focus of efforts to develop small molecule therapeutics from design, experimental proof of concept studies, and clinical trials.
James A. Shayman, Scott D. Larsen
doaj   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Fostering collaborative research for rare genetic disease: The example of Niemann-Pick type C disease [PDF]

, 2016
Rare disease represents one of the most significant issues facing the medical community and health care providers worldwide, yet the majority of these disorders never emerge from their obscurity, drawing little attention from the medical community or the
Austin, Christopher P, Davidson, Cristin D, Jacoby, Jonathan, Marella, Philip D, Ory, Daniel S, Ottinger, Elizabeth A, Porter, Forbes D, Vite, Charles H, Walkley, Steven U   +8 more
core   +2 more sources

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non‐inferiority sequential trial emulation

Journal of Internal Medicine, Volume 299, Issue 5, Page 604-614, May 2026.
Abstract Objective To compare the efficacy and safety of extended interval (Q3–4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. Methods We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry.
Maxime Beydon, Jérôme Stirnemann, Karima Yousfi, Samira Zebiche, Dalil Hamroun, Anaïs Brassier, Samia Pichard, Laure Swiader, Thierry Billette de Villemeur, Bénédicte Héron, Florence Dalbies, Bérengère Cador, Anne‐Sophie Guemann, Francis Gaches, Bénédicte Hivert, Vanessa Leguy‐Seguin, Agathe Masseau, Yves‐Marie Pers, Magali Pettazzoni, Soumeya Bekri, Catherine Caillaud, Edouard Le Guillou, Marie Szymanowski, Leonardo Astudillo, Wladimir Mauhin, Yann Nadjar, Christine Serratrice, Marc G. Berger, Fabrice Camou, Nadia Belmatoug, Yann Nguyen, the French Evaluation of Gaucher Disease Treatment Committee   +31 more
wiley   +1 more source

Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C

Neurology International
(1) Background: Niemann–Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal–lysosomal pathway.
Ali A. Mohamed, Willy Gan, Denis Babici, Veronica Hagan, Raphael Wald, Marc Swerdloff   +5 more
doaj   +1 more source

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease [PDF]

, 2015
Background Lysosomal storage disorders (LSDs), are a heterogeneous group of rare disorders caused by defects in genes encoding for proteins involved in the lysosomal degradation of macromolecules. They occur at a frequency of about 1 in 5,000 live births,
Cortina-Borja, Mario, Eichler, Sabrina, Eisa, Nada Al, Giese, Anne-Katrin, Grittner, Ulrike, Kramp, Guido, Lukas, Jan, Mascher, Hermann, Platt, Frances M., Porter, Forbes D., Rolfs, Arndt, Vruchte, Danielle te   +11 more
core   +2 more sources

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?

JIMD Reports, Volume 67, Issue 2, March 2026.
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
wiley   +1 more source

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  

Phenotypic expression of swallowing function in Niemann–Pick disease type C1

Orphanet Journal of Rare Diseases, 2022
Background Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death.
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter   +9 more
doaj   +1 more source