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…
News
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…
A single administration of AMT-190, uniQure’s investigational gene therapy for Fabry disease, significantly increases the activity of alpha-galactosidase A — the faulty enzyme in Fabry patients — in mice and primate models of disease. Preclinical findings were announced in the presentation “Development of…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
New clinical trial data support the effectiveness of AVR-RD-01, Avrobio‘s investigational gene therapy for Fabry disease. The data also indicate that Avrobio’s proprietary gene therapy platform plato might be more effective than conventional platforms. Data were shared at the American Society of Gene &…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.
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