News

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…

For Fabry Awareness Month this April, the Fabry International Network, or FIN — an alliance of 61 patient organizations in 57 countries — is shining a spotlight on doctors who have focused on caring for people with the rare inherited disease, helping patients better understand the disorder, get accurate…

Distinct groups of inflammatory proteins may contribute to the progression of heart problems in men and women with Fabry disease, a study suggests. While men exhibited a profile associated with a strong pro-inflammatory response, women had a profile that could be linked to accumulating scar tissue. The identified markers…

People with different lysosomal storage diseases have varying beliefs about prescribed medicines, which reflect their current medical needs, a study has found. Particularly, attitudes toward treatment in Fabry disease vary according to gender and are different in Fabry and other related disorders. According to researchers, these beliefs should be…

The case of a South African man diagnosed with hypertrophic cardiomyopathy (HCM), a disease of the heart muscle, who was later found to also have Fabry disease, suggests the rare inherited condition may be an underdiagnosed contributor to HCM, per a report. The researchers say this case “demonstrates the…

Mild to moderate cerebrovascular disease, which occurs when blood flow in the brain is impaired, is a characteristic brain signature in adults with Fabry disease, according to a new study. Nearly half of those examined showed signs of white matter damage, for which impaired kidney function was the sole…