Kathleen Nicholls

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype.

Robert J Hopkin, Ulla Feldt-Rasmussen, Dominique P Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Varas, Frank Weidemann, Meng Yang, William R Wilcox

Journal article  |  2020  |  Molecular Genetics and Metabolism Reports

Background: Fabry disease is an inherited disorder of glycolipid metabolism with progressive involvement of multiple organs, inclu..

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative.

Derralynn A Hughes, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Aleš Linhart, Jean-Claude Lubanda, James C Moon, Kathleen Nicholls, Dau-Ming Niu, Albina Nowak, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Raphael Schiffmann, Einar Svarstad, Mark Thomas, Roser Torra, Bojan Vujkovac, et al.

Journal article  |  2020  |  BMJ Open

OBJECTIVES: The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach c..

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G Kerr, Clara Gaff, Melissa Martyn, John Whitlam, Belinda Creighton, Elizabeth Donaldson, Matthew Hunter, Anna Jarmolowicz, Lilian Johnstone, Emma Krzesinski, Sebastian Lunke, Elly Lynch, Kathleen Nicholls, Chirag Patel, Yael Prawer, Jessica Ryan, Emily J See, Andrew Talbot, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidne..

Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomized, phase 3 ATTRACT study.

Ulla Feldt-Rasmussen, Derralynn Hughes, Gere Sunder-Plassmann, Suma Shankar, Khan Nedd, Iacopo Olivotto, Damara Ortiz, Toya Ohashi, Takashi Hamazaki, Nina Skuban, Julie Yu, Jay A Barth, Kathleen Nicholls

Journal article  |  2020  |  Molecular Genetics and Metabolism

Results from the 18-month randomized treatment period of the phase 3 ATTRACT study demonstrated the efficacy and safety of oral mi..

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

Dominique P Germain, Kathy Nicholls, Roberto Giugliani, Daniel G Bichet, Derralynn A Hughes, Laura M Barisoni, Robert B Colvin, J Charles Jennette, Nina Skuban, Jeffrey P Castelli, Elfrida Benjamin, Jay A Barth, Christopher Viereck

Journal article  |  2019  |  Genetics in Medicine

PURPOSE: Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated..

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

Derralynn A Hughes, Kathleen Nicholls, Gere Sunder-Plassmann, Ana Jovanovic, Ulla Feldt-Rasmussen, Raphael Schiffmann, Robert Giugliani, Vipul Jain, Chris Viereck, Jeffrey P Castelli, Nina Skuban, Jay A Barth, Daniel G Bichet

Journal article  |  2019  |  American Journal of Medical Genetics Part A

Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial

Raphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, Pilar Giraldo, Laura Barisoni, Robert B Colvin, Charles J Jennette, Gustavo Maegawa, Simeon A Boyadjiev, Derlis Gonzalez, Kathy Nicholls, Ahmad Tuffaha, Mohamed G Atta, Bonita Rup, Martha R Charney, Alona Paz, Mali Szlaifer, Sari Alon, Einat Brill-Almon, Raul Chertkoff, et al.

Journal article  |  2019  |  Journal of Inherited Metabolic Disease

Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2

Charlotte A Slade, Catriona McLean, Thomas Scerri, Binh Giang Tran, Steven Megaloudis, Alexander Strathmore, Jessica C Tempany, Katherine Nicholls, Colleen D'Arcy, Melanie Bahlo, Philip D Hodgkin, Jo A Douglass, Vanessa L Bryant

Journal article  |  2019  |  Journal of Clinical Immunology

A Demonstration of the Diagnostic and Clinical Utility of Genomic Sequencing in Primary Immunodeficiency Diseases in Australia

Charlotte Slade, Fiona Moghaddas, Sebastian Lunke, Zornitza Stark, Ingrid Winship, Kirsty West, Alison Trainer, Samar Ojaimi, Matthew Hunter, Yael Prawer, Katherine Nicholls, Mittal Patel, Pricilla Auyeung, Kymble Spriggs, Jeremy McComish, Gary Unglik, Joseph De Luca, Samantha Chan, Giulia Valente, Anna Jarmolowicz, et al.

Conference Proceedings  |  2019  |  JOURNAL OF CLINICAL IMMUNOLOGY

Management of refractory lupus nephritis: challenges and solutions

JH Yo, TD Barbour, K Nicholls

Journal article  |  2019  |  Open Access Rheumatology: Research and Reviews