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The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Measuring the activity of a certain enzyme whose levels are low or absent in Fabry disease may be a useful newborn screening blood test for its diagnosis, a five-year study in Italy suggests. With the test, Fabry disease, which is more common among men than women, was found…

Fabry disease patients who have had a kidney transplant and are on immunosuppressive therapies may show a weaker response to a COVID-19 vaccine, including the booster, according to a study about two patients in France. While one patient had significant increases in antibody levels against SARS-CoV-2, the virus that…

Idorsia will continue its open-label extension of the Phase 3 MODIFY trial to better determine if lucerastat, the company’s investigational oral therapy for Fabry disease, may be of benefit to patients’ kidneys and the heart. The decision comes despite the therapy having failed to outperform a placebo…

Note: This story was updated Jan. 17, 2022, to note that Avrobio is deprioritizing its Fabry program.   Avrobio is stopping its gene therapy program for Fabry disease in favor of clinical programs for other disorders, including cystinosis and Gaucher disease type 1. According to a company …

The Fabry International Network (FIN) is calling for global submissions for its annual FIN Award, which recognizes the efforts of patient organizations to educate and unify the Fabry disease community and to heighten awareness of the rare genetic lysosomal storage disorder. Projects must be initiated this year for…

A man living with Fabry disease for more than two decades was found to have a second co-occurring genetic condition called polycystic kidney disease, according to a recent report. “This case demonstrates the possibility of two [genetic kidney diseases] in the same individual and the risk of one diagnosis…

A single dose of 4D-310, an investigational gene therapy from 4D Molecular Therapeutics (4DMT), appears generally safe and restored the levels of alpha-galactosidase A (Gal A), the faulty enzyme in Fabry disease, in the first three men enrolled in a Phase 1/2 clinical trial. Notably, all three patients…