Results 51 to 60 of about 744,838 (140)

Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study [PDF]

, 2023
BACKGROUND: Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease with an annualised estimated ...
Warnock, David G, Kantola, Ilkka, Rocco, Rossana, Chertkoff, Raul, Holida, Myrl, Knoll, Jasmine, Langeveld, Mirjam, Barshop, Bruce A, Kimonis, Virginia, Brill-Almon, Einat, Vujkovac, Bojan, Karaa, Amel, Alon, Sari, Tøndel, Camilla, Geberhiwot, Tarekegn, Jovanovic, Ana, Muriello, Michael, Sakov, Anat, Deegan, Patrick B, Linhart, Aleš, Germain, Dominique Paul, Waldek, Stephen, Ortiz, Damara, Hughes, Derralynn A, Giraldo, Pilar, Nowak, Albina, Mehta, Ankit, Wallace, Eric L, Bernat, John, Pisani, Antonio, Nedd, Khan, Longo, Nicola, Goker-Alpan, Ozlem, Wilcox, William R, Molnar, Maria Judit, Hopkin, Robert J   +35 more
core   +1 more source

Supply and Demand in the Mathematics of Rare Disease Drug Development: Why Choosing the Right Model Is Crucial

Clinical and Translational Science, Volume 19, Issue 5, May 2026.
ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley   +1 more source

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry [PDF]

, 2010
Purpose: To evaluate the effect of agalsidase beta on longitudinal health-related quality of life in patients with Fabry disease. Methods: the SF-36 (R) Health Survey was used to measure health-related quality of life in Fabry Registry patients.
Fanny O'brien, O'Brien, Fanny, Alessandro P. Burlina, Sims, Katherine, Burlina, Alessandro P., Burlina, Alessandro P, Dorothee Schönfeld, Hopkin, Robert J., Robert J. Hopkin, Schoenfeld, Dorothee, Martins, Ana Maria [UNIFESP], Cazzorla, Chiara, Torquil Watt, Dana Beitner-Johnson, Maryam Banikazemi, Beitner-Johnson, Dana, Martins, Ana Maria, Ana Maria Martins, Katherine Sims, Banikazemi, Maryam, Ulla Feldt-Rasmussen, Schönfeld, Dorothee, Watt, Torquil, Feldt-Rasmussen, Ulla, Chiara Cazzorla, Hopkin, Robert J   +25 more
core   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
Siwu He, Li Yang, Ke Wan, Zhaoyue Zheng, Mi Leng, Chunmei Gan, Yu Liu, Lin Xiao, Jingya Ye, Zhian Chen, Jiao Zhou, C. Alexander Valencia, Aliah Abuammah, Hoi Yee Chow, Biao Dong, Yucheng Chen   +15 more
wiley   +1 more source

Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report

Genetics and Molecular Biology, 2018
Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of ...
Roberto Giugliani, Stephanie Westwood, Hartmann Wellhoefer, Jörn Schenk, Andrey Gurevich, Christoph Kampmann   +5 more
doaj   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Nursing of an adult patient with Fabry disease (1例成人罕见法布里病患者的护理)

中西医结合护理, 2022
This paper summarized the nursing interventions for an adult patient with Fabry disease. Key issues of nursing included medication care during intravenous therapy of Agalsidase Beta, pain and fever control, prevention of unintentional injury, symptom ...
YU Weiwei (余卫卫), YU Lingling (于玲玲), CHEN Ting (陈婷)   +2 more
doaj   +1 more source

Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

European Journal of Neurology, Volume 32, Issue 11, November 2025.
A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk.
David Moreno‐Martinez, Sara Lucas‐Del‐Pozo, Lucia Lavalle, Uma Ramaswami, Lionel Ginsberg, Guillem Pintos‐Morell, Derralynn A. Hughes   +6 more
wiley   +1 more source

Mechanism‐Based Modeling Approaches to Quantify the Effect of Immunogenicity on the Pharmacokinetics of Therapeutic Proteins in Drug Development

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 9, Page 1431-1441, September 2025.
ABSTRACT Therapeutic protein administration in both preclinical and clinical studies can result in the formation of anti‐drug antibodies against the therapeutic protein. Anti‐drug antibody formation may alter the pharmacokinetics of the therapeutic protein, reduce its plasma concentrations, increase exposure variability, and may lead to a loss of ...
Paridhi Gupta, Josiah T. Ryman, Vibha Jawa, Bernd Meibohm   +3 more
wiley   +1 more source

A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation [PDF]

Journal of Nephropathology, 2012
Background: Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA).
Jorge H. Mukdsi, Silvina Gutiérrez, Belén Barrón, Pablo Novoa, Segundo Fernández, Ana B de Diller, Alicia I. Torres, Richard N Formica Jr., Marcelo Orías   +8 more
doaj   +1 more source