News

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…

A kidney biopsy can be important in diagnosing Fabry disease because it can confirm or rule out the condition when other tests like genetic analysis are inconclusive, according to a report detailing the case of a middle-aged woman in Italy. For this woman, 55, the results helped guide proper…

AL01211 may help stabilize symptoms in men with Fabry disease, while easing pain and improving quality of life, according to interim results from a Phase 2 trial. The trial (NCT06114329), underway at six sites in China, is primarily evaluating the safety of the Acelink Therapeutics treatment. AL01211…

Fabry disease is underdiagnosed across different minority ethnic groups in the U.K., a study suggests. Despite making up about one-fifth of the population of England and Wales, less than 10% of those who received a Fabry diagnosis were ethnic minorities, compared with 90% of the white population. “Further research…