People with Fabry disease appear to have an increased capacity to generate thrombin — a key protein involved in blood clot formation — and higher levels of several other clotting-related factors, potentially putting them at a greater risk of developing a blood clot in a blood vessel or the…
News
Switching from the enzyme replacement therapy (ERT) agalsidase alfa to Fabrazyme (agalsidase beta) was associated with reduced pain and lower levels of a disease biomarker in a boy with classic Fabry disease, according to a case report from Japan. The boy was diagnosed through newborn screening and…
Four family members with Fabry disease carrying the same GLA mutation showed markedly different neurological manifestations, ranging from recurrent strokes to nerve pain and hearing loss, according to a case series. Brain small-vessel disease was detected in three evaluated adults, while the youngest family member, an 18-year-old girl, had…
PTC Therapeutics has been selected as the winning bidder to acquire ST-920 (isaralgagene civaparvovec), a one-time gene therapy candidate for Fabry disease, from the therapy’s original developer, Sangamo Therapeutics, in a competitive bankruptcy auction. PTC said it will leverage existing regulatory and commercial infrastructure, and expects to…
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…
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…
Recent Posts
- People with Fabry may be at higher risk of blood clots, study shows
- Fabry therapy switch linked to less pain, lower biomarker in boy
- Fabry symptoms vary widely in family members with same gene mutation
- PTC to acquire Sangamo’s gene therapy for Fabry disease
- FSIG marks 30 years of Fabry advocacy as new director takes the helm