Results 41 to 50 of about 1,106 (130)

Fabry disease biomarkers in patientsswitched from enzyme replacement therapyto migalastat oral chaperone therapy: supplementary table 1

, 2023
Background: A biomarker profile was evaluated longitudinally in patients with Fabry disease switchedfrom enzyme replacement therapy (ERT) to migalastat. Methods: Sixteen Gb3 isoforms and eight lyso-Gb3 analogues were analyzed in plasma and urine by LC–MS/
Christiane Auray-Blais (1413886), Pamela Lavoie (1996201), Anna Lehman (3492815), Tristan Martineau (4620619), Aneal Khan (2837996), Michael L West (17179816), Gheona Altarescu (539), Daniel G Bichet (17179817), Georges Kabala Ntumba (17179808), Ozlem Goker-Alpan (18201), Mohamed Gamrani (17179811), Albina Nowak (512529)   +11 more
core   +1 more source

Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification

Biomolecules, 2023
The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacological chaperones are a feasible alternative to enzyme ...
Ian Keyzor, Simon Shohet, Jeff Castelli, Sheela Sitaraman, Biliana Veleva-Rotse, Jill M. Weimer, Brian Fox, Tobias Willer, Steve Tuske, Louise Crathorne, Klara J. Belzar   +10 more
doaj   +1 more source

Plasma Migalastat PK Summary.

, 2015
a Geometric mean (CV%)b Median (range)c Arithmetic mean (CV%)Plasma Migalastat PK Summary.
Mark Thomas (83380), Carrolee Barlow (55079), Myrl Holida (781292), David J. Lockhart (150528), Franklin K. Johnson (781296), Kenneth J. Valenzano (150531), Brandon A. Wustman (600825), Pol Boudes (398543), Richie Khanna (150496), John J. Flanagan (150499), David G. Warnock (166505), Daniel G. Bichet (781291), Francois Eyskens (5664652), Sheela Sitaraman (781295), Ozlem Goker-Alpan (18201), Mathews Adera (781294), Kathy Nicholls (398542), Jay Barth (495717), Suma Shankar (781293)   +18 more
core   +1 more source

In Vitro and In Vivo Amenability to Migalastat in Fabry Disease

Molecular Therapy: Methods & Clinical Development, 2020
Migalastat (1-deoxygalactonojirimycin) is approved for the treatment of Fabry disease (FD) in patients with an amenable mutation. Currently, there are at least 367 amenable and 711 non-amenable mutations known, based on an in vitro good laboratory ...
Malte Lenders, Franciska Stappers, Eva Brand   +2 more
doaj   +1 more source

Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study

Frontiers in Genetics
IntroductionFabry disease is a progressive, X-linked lysosomal disorder caused by GLA variants that result in dysfunctional α-galactosidase A (α-Gal A) enzyme. One treatment option is migalastat, an oral small-molecule pharmacological chaperone treatment
Juan Manuel Politei, Ana María Zarante Bahamón, Ana Maria Martins, Afrânio Souza De Melo, Marcelo Horacio de Sa Pereira, Andréia Loures-Vale, Biliana O. Veleva-Rotse, Eva Krusinska, Valerie Lengoc   +8 more
doaj   +1 more source

Small Molecule Therapeutic Approaches With a Greater Focus on Hearing Loss: A Review

Health Science Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background and Aims Hearing loss (HL) is one of the most common sensory impairments worldwide and has substantial effects on quality of life and daily functioning. Although cochlear implants and hearing aids have markedly improved the management of hearing impairment, these devices do not directly address the underlying pathogenic mechanisms ...
Maryam Naghinejad, Farzaneh Motallebi, Elaheh Hasani, Moein Kohkalani, Sepideh Parvizpour, Sima Mansoori Derakhshan   +5 more
wiley   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

Orphanet Journal of Rare Diseases
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A.
Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek, on behalf of the Polish Fabry Disease Collaborative Group   +13 more
doaj   +1 more source

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

Orphanet Journal of Rare Diseases, 2012
Background Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues.
Germain Dominique P, Giugliani Roberto, Hughes Derralynn A, Mehta Atul, Nicholls Kathy, Barisoni Laura, Jennette Charles J, Bragat Alexander, Castelli Jeff, Sitaraman Sheela, Lockhart David J, Boudes Pol F   +11 more
doaj   +1 more source

Fabry disease screening in high-risk populations in Japan: a nationwide study

Orphanet Journal of Rare Diseases, 2020
Background Fabry disease (FD) is a X-linked inherited disorder caused by mutations in the GLA gene, which results in the deficiency of α-galactosidase A (α-Gal A).
Shinichiro Yoshida, Jun Kido, Takaaki Sawada, Ken Momosaki, Keishin Sugawara, Shirou Matsumoto, Fumio Endo, Kimitoshi Nakamura   +7 more
doaj   +1 more source