Kathleen Nicholls

Granulomatosis with polyangiitis complicated by genital involvement: sustained response to rituximab

Lisa Paxton, Paul Champion De Crespigny, Kathleen Nicholls

Journal article  |  2021  |  INTERNAL MEDICINE JOURNAL

Treatment and long-term outcome in primary nephrogenic diabetes insipidus.

Sergio C Lopez-Garcia, Mallory L Downie, Ji Soo Kim, Olivia Boyer, Stephen B Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, Ben C Reynolds, Stéphane Decramer, Martine Besouw, Manel Perelló Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurélie Hummel, Claire Dossier, John A Sayer, Martin Konrad, Mandy G Keijzer-Veen, et al.

Journal article  |  2020  |  Nephrol Dial Transplant

BACKGROUND: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long..

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..

Treatable lysosomal storage diseases in the advent of disease-specific therapy

Heidi Peters, Carolyn Ellaway, Kathleen Nicholls, Katrina Reardon, Jeff Szer

Journal article  |  2020  |  INTERNAL MEDICINE JOURNAL

Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50 heritable metabolic disorders caused by muta..

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..

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, Ales 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..

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..

SUN-205 Inherited Renal Disease at the Royal Melbourne Hospital – Prevalence, Impact and Benefit of a Specialist Renal Genetics Clinic

A Talbot, S Holt, C Quinlan, A Trainer, I Winship, K Nicholls

Journal article  |  2019  |  Kidney International Reports

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