Posts by: Marta Figueiredo

Marta Figueiredo

Marta Figueiredo holds a BSc in Biology and a MSc in Evolutionary and Developmental Biology from the University of Lisbon, Portugal. She is currently finishing her PhD in Biomedical Sciences at the University of Lisbon, where she focused her research on the role of several signalling pathways in thymus and parathyroid glands embryonic development.

January 5, 2021January 5, 2021

Kidney Function Test Alone May Not Effectively Screen for Fabry

News

Using only an age-dependent threshold of estimated glomerular filtration rate (eGFR) — a marker of kidney function — indicating mild-to-moderate kidney disease is insufficient to effectively screen for undiagnosed ... Read more

December 1, 2020December 3, 2020

Study: Most Males With Classic Fabry Develop Neutralizing Antibodies Against ERT

News

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 ... Read more

November 26, 2020November 26, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

News, syndicated

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 ... Read more

July 21, 2020July 21, 2020

Certain Fabry Patients May Switch from ERT to Galafold, Real-life Study Suggests

News

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, ... Read more

December 18, 2019December 18, 2019

Cardiac Health Checks Should Be Given Women with GLA Mutations, Finish Study Suggests

News

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 ... Read more

October 2, 2019October 2, 2019

Fabry Disease Patients with Higher Residual GLA Activity Respond Better to Galafold Treatment, Swiss Study Says

News

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 ... Read more

December 4, 2018December 4, 2018

Fabry Stabilization Index (FASTEX) Deemed Valid, Specific for Patient Monitoring

News

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 ... Read more

November 27, 2018November 27, 2018

Replagal, an ERT, Appears Safe for Use During Pregnancy and Nursing, Case Study Reports

News

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 ... Read more

November 13, 2018November 13, 2018

ERT Dose Should be Tailored to Patient for Optimal Effectiveness, Study Shows

News

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 ... Read more

October 30, 2018October 30, 2018

Absence of Lesions in Two Specific Brain Regions May Help Distinguish Fabry Disease from MS, Study Shows

News

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 ... Read more