News

Levels of certain molecules in the blood may help track disease activity and kidney damage in Fabry disease, a study found. “These biomarkers may play a crucial role in improving clinical management by facilitating early diagnosis and personalized treatment strategies for” Fabry disease, researchers wrote in the study, “…

Serious complications like cardiovascular disease and other heart issues, kidney problems, and stroke are common among adults with Fabry disease and may be associated with factors such as sex, age at diagnosis, genetic profiles, and cardiometabolic risk factors like obesity, according to the findings of a 20-year U.K. study.

Changes in the cornea are found in the eyes of people with Fabry disease who have a common disease symptom called corneal verticillata, and these alterations could affect vision quality, a study has found. Specifically, patients tend to have more abnormalities or aberrations in the cornea that affect the…

A type of bone tissue death called avascular necrosis is a rare and painful complication of Fabry disease that clinicians should be aware of, according to a recent case report. The report described a 41-year-old man with Fabry who experienced severe pain and mobility problems from avascular necrosis, and…

Up to 20 years of treatment with agalsidase alfa slowed declines in kidney and heart function, and extended survival, among people with Fabry disease, according to the findings of a global real-world study. The therapy’s long-term use was found to delay mortality in these patients…

All patients who have so far received the gene therapy candidate ST-920 (isaralgagene civaparvovec) — being developed by Sangamo Therapeutics for Fabry disease — in a Phase 1/2 clinical trial have reached the one-year mark required by the U.S. Food and Drug Administration (FDA) before the company…

Technologies using artificial intelligence (AI) have the ability to facilitate earlier diagnoses and better treatment for people living with rare conditions such as Fabry disease, according to a new review study by researchers in Europe. In the study, the scientists discussed several ways AI has been applied in…

Lomerizine — used clinically to treat migraines — helped ease vascular-related symptoms in a mouse model of Fabry disease, according to a new study from researchers in South Korea. The drug, one of a class of medications called calcium channel blockers, which work to lower blood pressure, also improved…

A woman with heart failure due to late-onset Fabry disease received a heart transplant in combination with immunosuppressants and Fabrazyme (agalsidase-beta) to resolve her cardiac symptoms, which didn’t recur after the transplant. “Although the risk of disease recurrence in the transplanted organ appears to be relatively low, this…

Researchers discovered new mutations in the GLA gene, the underlying cause of Fabry disease, but noted that all of them may be amenable to Galafold (migalastat) chaperone therapy, an approved treatment to slow or prevent organ function decline in Fabry patients, a new study reports. Clinical manifestations of…