When Jack Johnson helped found the Fabry Support & Information Group (FSIG) 30 years ago, he was driven by his own experience living with the rare genetic disorder — and a determination to ensure no other family had to navigate Fabry disease alone. Now, as the organization marks…
News
People with Fabry disease and their doctors often view important aspects of diagnosis and treatment differently, and these perception gaps could contribute to suboptimal disease management, according to a survey from South Korea. While both groups agreed on the importance of an accurate diagnosis and genetic counseling for…
uniQure‘s investigational gene therapy AMT-191 markedly boosted the levels of the enzyme whose deficiency causes Fabry disease in all patients dosed thus far in a small clinical trial. Further, each of the 11 adults with Fabry taking part in the Phase 1/2 study (NCT06270316) was able…
People with Fabry disease who develop antidrug antibodies (ADAs) against enzyme replacement therapy (ERT) tend to show higher levels of disease-related biomarkers and experience more infusion-related reactions than those without these antibodies. The review of 24 studies found the link between ADAs and kidney and heart outcomes was…
Direct genetic testing in Spanish adults at high risk for Fabry disease uncovered 10 previously unreported mutations in the GLA gene, a new study has found. “These findings highlight the value of direct genetic analysis in high-risk populations for identifying both known and previously unreported GLA variants,” noted researchers,…
Using a computer-assisted test on biopsy data from people with Fabry disease can automatically measure the amount of fatty buildup seen in the skin, helping to monitor the rare inherited condition, a new study shows. However, while this “automated image analysis” successfully spotted this buildup in both men and…
A middle-aged man with Fabry disease developed severe narrowing in all three major heart arteries despite receiving standard treatment and having well-controlled traditional cardiovascular risk factors, a case study from China reported. Tests revealed rapidly worsening coronary disease, with narrowing in the arteries that supply blood to the heart, along…
A large newborn screening (NBS) program in Japan identified 77 potential cases of Fabry disease from 2006 to 2022, according to a study. The number includes infants with genetic mutations known to cause Fabry disease, as well as infants with mutations that might be linked to the condition (variants…
Measurements of subtle eye changes in people with Fabry disease may offer a noninvasive way to support the early diagnosis and long-term monitoring of eye involvement in the rare genetic disorder, a study showed. Researchers found that pupils in people with Fabry recovered more slowly after exposure to light,…
Standard newborn screening tests for Fabry disease regularly miss female infants, leading to delays in their diagnosis and treatment compared with males, a new study reveals. Because current screening relies on measuring enzyme activity, the test is generally less reliable for girls, who…
Recent Posts
- FSIG marks 30 years of Fabry advocacy as new director takes the helm
- Patient-doctor perception gaps could affect Fabry disease management
- Gene therapy shows benefits in all participants in Fabry clinical trial
- Antibodies to Fabry treatment tied to infusion reaction risk
- I’m finally taking the increased risk of stroke in Fabry disease seriously