More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Switching from enzyme replacement therapy (ERT) to Galafold (migalastat) is a valid and safe therapeutic option for Fabry disease patients with Galafold-amenable mutations, according to a real-life study from Italy. Notably, the data showed that Galafold resulted in greater and significant improvements in patients’ heart size and kidney function,…
A common GLA mutation is highly associated with the development of Fabry disease in both men and women, and even women with no typical disease symptoms show signs of heart damage, a Finish study suggests. These findings highlight the importance of  cardiac evaluations in women carrying GLA mutations,…
Nearly half of Fabry patients have amenable or responsive mutations to Galafold (migalastat) but show different responses to the therapy, according to a Swiss population study. The study found that patients with higher residual activity of the alpha-galactosidase A (GLA) enzyme — which is deficient in Fabry patients —…
Fabry Stabilization index (FASTEX) is a valid, specific, and sensible instrument to accurately assess disease stability/progression in people with classic or non-classic Fabry disease, a large study showed. The results highlighted the value of using this tool in the clinical setting to monitor Fabry patients in a standardized way.
Use of Replagal — an enzyme replacement therapy (ERT) — during pregnancy and breastfeeding by women with Fabry disease appears to be safe for them and their children, according to a case series study. The study, “Enzyme Replacement Therapy in Pregnant Women with Fabry Disease: A Case…
Adjusting the dose of enzyme replacement therapy (ERT) for each patient may be essential to achieve complete neutralization of antibodies against the treatment, and reach better results to halt the progression of Fabry disease, according to a recent study. The study, “Dose-Dependent Effect of Enzyme Replacement…
The absence of white matter lesions (WMLs) in two specific regions of the brain may help physicians distinguish Fabry disease from multiple sclerosis and make an accurate diagnosis, a study has found. The study, “Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with…
Protalix BioTherapeutics‘ investigational therapy PRX-102 (pegunigalsidase alfa) improved kidney function in Fabry disease patients, according to preliminary Phase 3 clinical results. The company announced that additional positive preliminary data of its BRIDGE clinical trial will be presented during the Canadian Symposium on Lysosomal Diseases, taking place Oct. 5-6 in Sherbrooke,…
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