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Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naive Fabry disease patients.
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from the α-galactosidase A gene mutations. Enzyme-replacement-therapy (ERT) products for FD currently used include agalsidase alfa and agalsidase beta.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Background: Fabry disease is an X-linked lysosomal storage disorder caused by GLA mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of lysosomal substrates.
Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages.
Background: Fabry patients on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in estimated glomerular filtration rate (eGFR) and an increase of the Mainz Severity Score Index.
Effects of long-term cysteamine treatment in patients with cystinosis.
Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation.
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.
Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities.
FDA grants accelerated approval for Galafold treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.--Amicus Therapeutics.
Amicus Therapeutics has announced that the FDA has granted accelerated approval of Galafold (migalastat) 123 mg capsules. Galafold is an...
Perceptions of Barriers to Effective Obesity Care: Results from the National ACTION Study.
ACTION (Awareness, Care, and Treatment in Obesity maNagement) examined obesity-related perceptions, attitudes, and behaviors among people with obesity (PwO), health care providers (HCPs), and employer representatives (ERs).
Amicus Therapeutics announces European Commission approval of Galafold for adolescents with Fabry Disease.
Amicus Therapeutics has announced the European Commission has approved Galafold (migalastat) for use in adolescents aged 12 to <16 years weighing greater than 45 kg with a confirmed diagnosis of fabry disease and who have an amenable mutation.
Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naive and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.
This retrospective, exploratory analysis of data from phase 3 clinical trials of velaglucerase alfa in patients with type 1 GD evaluated the potential of lyso-Gb1 as a specific and sensitive biomarker for GD.