Author Archives: Marta Figueiredo PhD

People with classic Fabry disease due to a common disease-causing mutation who don’t smoke can still have poorer lung health and symptoms like dry cough and shortness of breath, but these symptoms can stabilize with enzyme replacement therapy (ERT), a small study in Finland suggests. These findings, in a group…

Beginning enzyme replacement therapy (ERT) before age 16 is associated with reduced kidney and heart damage — relative to no treatment — in males with classic Fabry disease, according to a small study from the Netherlands. These early findings, concerning 10 years of treatment with Fabrazyme (agalsidase beta),…

Fabry disease patients who have had a kidney transplant and are on immunosuppressive therapies may show a weaker response to a COVID-19 vaccine, including the booster, according to a study about two patients in France. While one patient had significant increases in antibody levels against SARS-CoV-2, the virus that…

A single dose of 4D-310, an investigational gene therapy from 4D Molecular Therapeutics (4DMT), appears generally safe and restored the levels of alpha-galactosidase A (Gal A), the faulty enzyme in Fabry disease, in the first three men enrolled in a Phase 1/2 clinical trial. Notably, all three patients…

FLT190, Freeline Therapeutics’ experimental gene therapy, led to sustained increases in alpha-galactosidase A (Gal A), the faulty enzyme in Fabry disease, in the first two patients given the one-time therapy in the Phase 1/2 MARVEL-1 clinical trial. Notably, the second patient, dosed early this year, has reached near-normal…

A single dose of Avrobio’s investigational gene therapy AVR-RD-01 continues to show a favorable safety and tolerability profile for up to 4.5 years in adolescents and adults with Fabry disease, according to latest data from Phase 1 and Phase 2 clinical trials. Notably, up to 3.5-year data previously showed the…

Avrobio’s ongoing FAB-GT Phase 2 clinical trial, testing its experimental gene therapy AVR-RD-01 in adolescents and adults with Fabry disease, is now open to female patients. The protocol amendment, implemented in August, allows girls and women with Fabry to participate in the trial, even though their symptoms…

Juvenile idiopathic arthritis or JIA, the most frequent chronic inflammatory arthritis disorder affecting children, may co-occur with Fabry disease, according to a study of children with JIA in Brazil. While early Fabry symptoms may resemble those of JIA — and may lead to misdiagnoses — in this study,…

One year of treatment with PRX-102 (pegunigalsidase alfa), an investigational enzyme replacement therapy (ERT), was at least as effective as Fabrazyme (agalsidase beta) at preventing kidney function decline in adults with Fabry disease, interim data from the BALANCE Phase 3 clinical trial show. These findings add to the growing body…

The U.S. Food and Drug Administration (FDA) has rejected Protalix BioTherapeutics and Chiesi Global Rare Diseases’ request for accelerated approval of PRX-102 (pegunigalsidase alfa) as the first plant-based, every-other-week enzyme replacement therapy (ERT) for adults with Fabry disease. This decision was not related to any concerns with the safety or effectiveness of PRX-102 shown…