A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
Protalix BioTherapeutics and Chiesi Farmaceutici are planning to submit a biologics license application with the U.S. Food and Drug Administration (FDA) for PRX-102 (pegunigalsidase alfa) as a treatment for Fabry disease, the companies have announced. After several months, and a series of meetings and correspondence with…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
A novel gene therapy developed by 4D Molecular Therapeutics can increase gene delivery to the heart without triggering an immune response, according to preclinical data. The gene therapy candidate is anticipated to enter human clinical trials in 2020. The findings were presented in a scientific poster, “A Novel…
A single injection with candidate gene therapy FLT190 showed positive results in a mouse model of Fabry disease by significantly increasing blood levels of GLA — the enzyme affected in this disease — and reducing Gb3 storage levels in the heart and kidney, the therapy’s developer, Freeline,…
One-time administration in mice of a gene therapy candidate known as ST-920 led to substantial increases in the activity of the key Fabry disease enzyme alpha-GalA and marked reductions in the levels of the fatty molecules that accumulate in patients with this disease. A Phase 1/2 clinical trial testing…
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…
Fabry disease shares some manifestations with rheumatic diseases, which has raised concerns of wrongful diagnosis and consequent delayed treatment. Still, patients with this rare genetic disease are unlikely to be systematically overlooked in clinical rheumatology practice, results of a genetic analysis of German patients with early undifferentiated arthritis shows. The…
With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…
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