With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…
News
The absence of white matter lesions (WMLs) in two specific regions of the brain may help physicians distinguish Fabry disease from multiple sclerosis and make an accurate diagnosis, a study has found. The study, “Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with…
Children and adolescents with Fabry disease who have no clinical history of stroke, show asymptomatic brain lesions, according to a follow-up neuroimaging study. Early detection of these lesions could make it easier for clinicians to begin treatment. The study, “Brain MRI findings in children and adolescents with Fabry disease” was published in the …
Because there is relatively less awareness of rare genetic diseases, which often share symptoms common to better-known disorders, a program has been created to provide access to free diagnostic genetic testing for several lysosomal storage diseases, including Fabry disease. Tens of thousands of lysosomal storage disease cases go undiagnosed.
Inhibition of oxidative compounds using pharmacological or nutritional approaches, in addition to enzyme replacement therapy, may benefit patients with Fabry disease, research suggests. Treatment with antioxidant agents may help prevent the progressive damage in the heart and kidneys experienced by these patients. The study, “…
Cardiovascular damage is one of main causes of mortality in Fabry disease. A study now suggests that high HDL cholesterol levels are related to vascular lesions. The observational study, “Correlations Between Serum Cholesterol and Vascular Lesions in Fabry Disease Patients” was published in J-STAGE. Fabry disease is an inherited…
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
AVROBIO, a biotechnology company developing single-dose gene therapies for rare diseases, announced positive preliminary data for its Phase 1/2 clinical trial testing AVR-RD-01 gene therapy in patients with Fabry disease. AVR-RD-01 has shown to be safe and effective in delivering a healthy GLA gene that encodes a functional…
A study in a Nordic population found no apparent clinical benefit in screening patients with idiopathic small fiber neuropathy or mixed neuropathy for hereditary ATTR amyloidosis and Fabry disease, identifying no definite cases of either disorder. The study, “Screening for Fabry disease and hereditary ATTR amyloidosis in idiopathic…
A case study detailing a younger man admitted to a hospital for a stroke — later attributed to Fabry disease — highlights the importance of family history in diagnosing diseases, especially rare diseases like Fabry, that have a wide range of clinical manifestations. The case report, “Fabry Disease Diagnosis…
Recent Posts
- Addition’s gene therapy for Fabry yields positive preclinical results
- Guest Voice: How to protect mental health after a devastating diagnosis
- In the French Pyrenees, an entire community shares our burdens
- Developer, FDA to meet face-to-face on plans for testing Fabry gene therapy
- With Fabry disease, I often juggle multiple symptoms at a time
- New Fabry disease nanomedicine takes two-pronged approach in cells
- New Fabry gene therapy may work better than others in development
- SGLT2 inhibitors show promise for heart health in Fabry: Study
- Making strides toward greater Fabry disease awareness
- Monthly Elfabrio treatment keeps Fabry disease stable for 5 years