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…
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…
The intracranial volume (ICV) in patients with Fabry disease is significantly lower than in healthy individuals, indicating an early onset of neurodevelopmental abnormality, according to researchers. Their study, “Reduced Intracranial Volume in Fabry Disease: Evidence of Abnormal Neurodevelopment?” was published in the journal Frontiers in Neurology. Fabry…
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