Results 61 to 70 of about 1,106 (130)

Discordant renal progression of Fabry disease in male monozygotic twins: a case report

Frontiers in Genetics, 2023
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A (α-GAL).
Do-Yun Lee, Jun-Yeong Jeong, Seung-Eun Lee, Jae-Hun Lee, Ju-Young Moon, Su Woong Jung, Sang-Ho Lee, Yang Gyun Kim   +7 more
doaj   +1 more source

Historical Control Analysis Demonstrates Greater Long‐Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Dominique P. Germain, Pronabesh DasMahapatra, Shiguang Liu, Patrick Deegan, Alberto Ortiz, Vijay Modur, William R. Wilcox   +6 more
wiley   +1 more source

Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland

ESC Heart Failure, Volume 12, Issue 5, Page 3502-3511, October 2025.
Abstract Aims To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients. Methods and results Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years.
Kati Valtola, Päivi Pietilä‐Effati, Jonna M. E. Männistö, Susanne Walls, Ilkka Kantola, Johanna Kuusisto   +5 more
wiley   +1 more source

How Clinical Pharmacology Can Support Clinical Trial Diversity and Inclusion

Clinical and Translational Science, Volume 18, Issue 9, September 2025.
ABSTRACT Enrolling diverse populations during early clinical trial development and planning for diversity plans could be challenging. In 2024, the Diversity and Inclusion Clinical Pharmacology Leadership Group Working Group (D&I CPLG WG) from The International Consortium for Innovation and Quality in Pharmaceutical Development (IQ) collaborated with ...
Michael Z. Liao, Aarti Sawant, Brian Corrigan, Sebastian Haertter, Yasuto Otsubo, Islam R. Younis, Sreeneeranj Kasichayanula, Rashmi Mehta   +7 more
wiley   +1 more source

Effect of Migalastat on cArdiac Involvement in FabRry Disease: MAIORA study

, 2023
Background: A small but significant reduction in left ventricular (LV) mass after 18 months of migalastat treatment has been reported in Fabry disease (FD).
Graziani F., Camporeale A., Spada M.
core   +2 more sources

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Cutaneous manifestations of Fabry disease: A systematic review

The Journal of Dermatology, Volume 52, Issue 4, Page 571-582, April 2025.
Abstract Fabry disease (FD) is a rare X‐linked lysosomal storage disorder resulting in potential debilitating accumulation of glycosphingolipids in organs such as skin, nerves, heart, kidneys, lungs, and the central nervous system. Skin is easily investigated and can guide clinicians to diagnose FD, minimizing delay of enzyme substitution therapy. This
Rami Nabil Al‐Chaer, Mathias Folkmann, Nina Løth Mårtensson, Ulla Feldt‐Rasmussen, Mette Mogensen   +4 more
wiley   +1 more source

Lentivirus‐mediated gene therapy for Fabry disease: 5‐year End‐of‐Study results from the Canadian FACTs trial

Clinical and Translational Medicine, Volume 15, Issue 1, January 2025.
Durable 5‐year End‐of‐Study results from the ‘first‐in‐the‐world’ gene therapy trial for Fabry disease. Abstract Background Fabry disease is an X‐linked lysosomal storage disorder due to a deficiency of α‐galactosidase A (α‐gal A) activity. Our goal was to correct the enzyme deficiency in Fabry patients by transferring the cDNA for α‐gal A into their ...
Aneal Khan, Dwayne L. Barber, William M. McKillop, C. Anthony Rupar, Christiane Auray‐Blais, Graeme Fraser, Daniel H. Fowler, Alexandra Berger, Ronan Foley, Armand Keating, Michael L. West, Jeffrey A. Medin   +11 more
wiley   +1 more source

New Drugs Available for Fabry Disease

Kidney & Blood Pressure Research
Background: Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene, leading to a deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A) and the accumulation of complex glycosphingolipids such as ...
Fernando Perretta, Gustavo Cabrera, Juan Politei   +2 more
doaj   +1 more source

Fabry Nephropathy: An Evidence-Based Narrative Review

Kidney & Blood Pressure Research, 2018
Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other ...
María del Pino, Amado Andrés, Ana Ávila Bernabéu, Joaquín de Juan-Rivera, Elvira Fernández, Juan de Dios García Díaz, Domingo Hernández, José Luño, Isabel Martínez Fernández, José Paniagua, Manuel Posada de la Paz, José Carlos Rodríguez-Pérez, Rafael Santamaría, Roser Torra, Joan Torras Ambros, Pedro Vidau, Josep-Vicent Torregrosa   +16 more
doaj   +1 more source