Lindsey Shapiro, PhD, science writer —

A rare pair of mutations were identified as the likely cause of Fabry disease for a young man with cardiac involvement in Japan who was successfully treated with Galafold (migalastat). While the clinical significance of the two mutations has not been well established, researchers believe their combined effects…

Scientists have engineered versions of the alpha-galactosidase A (Gal A) enzyme that could eventually be used to produce a more stable and effective enzyme replacement therapy (ERT) for Fabry disease. In animal models, the modified enzymes lasted longer in the bloodstream and showed better activity in target tissues like…

FLT190, an experimental gene therapy from Freeline Therapeutics, safely led to stable increases in the activity of alpha-galactosidase A (alpha-gal A) — the enzyme that is missing in Fabry disease — and prevented the buildup of globotriaosylceramide (Gb3) and lyso-Gb3 in a mouse model of the disease.

Adults with Fabry disease exhibited high levels of adherence to at-home Galafold (migalastat) treatment over a two-year period, according to a recent study. Patients also reported a stable quality of life, with reductions in pain and physical limitations over time — all of which are factors that can influence…

Daily treatment with the investigational oral therapy venglustat in men with Fabry disease led to significant reductions in globotriaosylceramide (Gb3 or Gl-3) — the fatty molecule that accumulates to toxic levels in the disease — and no signs of disease progression. That’s according to up to three years…

A variant in the GLA gene associated with Fabry disease was found in four women with Parkinson’s disease, but they had no Fabry symptoms, according to results from a study of 236 Parkinson’s patients. According to the research team, the significance of the mutation and the relationship between the two…

The next patient to receive FLT190, an investigational gene therapy for Fabry disease, in the ongoing Phase 1/2 MARVEL-1 trial will be given a second, higher dose of therapy, accelerating an earlier trial timeline. This person was originally intended to be included in the first, lowest dose group of…

Updated findings in an ongoing Phase 1/2 clinical trial of Sangamo Therapeutics‘ gene therapy ST-920 (isaralgagene civaparvovec) shows the treatment continues to be well tolerated and effective in adults with Fabry disease. As of the Nov. 19 data cutoff date, all five treated patients enrolled showed normalized levels of…