Adjusting the dose of enzyme replacement therapy (ERT) for each patient may be essential to achieve complete neutralization of antibodies against the treatment, and reach better results to halt the progression of Fabry disease, according to a recent study. The study, “Dose-Dependent Effect of Enzyme Replacement…
News
Fabry disease patients who share the same genetic mutation in the GLA gene may experience different symptoms, a case report study has found. The study, “Clinical Diversity in Patients with Anderson-Fabry Disease with the R301Q Mutation,” was published in Internal Medicine. Fabry disease is a rare…
News
#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
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…
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…
Recent Posts
- Fabry Awareness Month focuses on community, strength, and support
- Finding my tribe at FSIG’s recent Fabry community get-together
- New monthly dosing of Elfabrio approved in EU for some Fabry patients
- Understanding the significance of lyso-Gb3 in Fabry disease
- FDA grants orphan designation to new Fabry cell therapy GT-GLA-S03
- Sangamo seeks accelerated US approval of gene therapy for Fabry
- Common Fabry symptoms often mimic IBS in adults
- Two of my sons share what it’s like having three siblings with Fabry
- Idorsia outlines new Phase 3 program for lucerastat in Fabry disease
- Jeff’s Journey With Fabry Disease