Marta Figueiredo, PhD, science writer —

The Fabry disease burden is variable but significant among adolescents and caregivers, affecting their quality of life and mental health, according to results of online surveys in three European countries. In addition, standard enzyme replacement therapy (ERT) was reported to reduce the disease’s burden, but not fully. These findings highlight…

Galafold (migalastat) is generally safe and significantly reduces disease-associated heart enlargement in Fabry disease patients carrying Galafold-amenable mutations, according to two-year data from a real-life, multicenter study in Germany. These benefits were generally similar between patients who had previously received standard enzyme replacement therapy (ERT) and those who…

Many Fabry disease patients with heart involvement develop a slow and irregular heartbeat, called bradyarrhythmia, late in the disease course when heart damage is already advanced, according to a small study in Italy. The finding adds to previous studies reporting bradyarrhythmia as a late symptom of Fabry, discouraging…

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…