News

Using a new harmless version of an adeno-associated virus (AAV), scientists successfully delivered a human version of alpha-galactosidase A — the faulty enzyme in people with Fabry disease — to different tissues and organs, including the brain, of a mouse model of the disease. According to the researchers, these…

More than half of male patients with classic Fabry disease develop neutralizing antibodies against enzyme replacement therapy (ERT), affecting its effectiveness, according to a study from Japan. This development appeared to be associated significantly with the presence of nonsense mutations in GLA — the mutated gene in Fabry disease…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

With data now reaching up to 3.5 years, benefits are continuing to be reported with the use of AVR-RD-01, Avrobio‘s experimental gene therapy for Fabry disease, in Phase 1 and 2 clinical trials, the company announced. Avrobio plan to meet with the U.S. Food and Drug Administration (FDA) to…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

A genetic screening study found a higher-than-expected prevalence of undiagnosed Fabry disease in people who had kidney failure and transplant without a known cause. When the screening was extended to related family members, additional unidentified cases were found and treated early.  The findings led…

Physicians should consider Fabry disease when trying to determine the cause of recurrent episodes of fever in a patient that have no known or readily identifiable source, a case report highlighted. The study, “Recurrent fever of unknown origin: An overlooked symptom of Fabry disease,” was published in…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

The European Commission has granted orphan drug designation to Avrobio’s investigational gene therapy AVR-RD-01 for the treatment of Fabry disease. The decision, based on a positive opinion from the Committee for Orphan Medicinal Products of the European Medicines Agency, will provide regulatory and financial incentives for…