News

A Phase 1/2 clinical trial of Sangamo Therapeutics’ experimental gene therapy ST-920 in people with Fabry disease has completed dosing in second patient group, the company announced in a press release. Based on initial safety data, a trial monitoring committee has recommended that a planned third patient…

A recent type A meeting with the U.S. Food and Drug Administration (FDA) is likely to lead Protalix Biotherapeutics to resubmit a request for approval of PRX-102 (pegunigalsidase alfa) to treat Fabry disease, after its initial application was rejected by the agency. “We are pleased with the results of the…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

An eight-week, online mindfulness series for people with Fabry disease — aimed at relieving pain, reducing stress, and improving overall well-being — will open Sept. 29 and is currently enrolling participants. The Zoom series, which runs through Nov. 24, is presented by the MPS Society, which provides…

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…

Two cases of Fabry disease, diagnosed decades after symptom onset, were identified for the first time in a Central Asian family, a case study reported. Further analysis revealed many affected family members, demonstrating the importance of examining the relatives of people diagnosed with Fabry, the…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…