News

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

4D-310, a new gene therapy for Fabry disease that is being developed by 4D Molecular Therapeutics (4DMT), has been granted fast track designation by the U.S. Food and Drug Administration (FDA). This designation is given to investigational therapies that the FDA deems to have…

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

Pain, negative health perceptions, and certain coping styles for dealing with daily stressors are all linked to a greater incidence of depression among people with Fabry disease, according to a recent study. The study, “Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain,”…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Investigators have identified a new mutation in the GLA gene that caused Fabry disease in a 25-year-old man with end-stage kidney failure. His case was described in the study “Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel…

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 case study of two cousins with Fabry disease who started producing high levels of neutralizing antibodies after enzyme replacement therapy (ERT) highlight the need for alternative therapies. The study, “Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres,” was…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

A newly developed urine test that measures the levels of different proteins may help doctors to more quickly and accurately monitor the progression of Fabry disease, a study finds. The study, “Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease,” was published in…