Iron chelation therapy using deferiprone, while helping heart function, does not seem to improve neurological symptoms in Friedreich’s ataxia patients, a review study argues. The study, “New Perspectives in Iron Chelation Therapy for the Treatment of Neurodegenerative Diseases,” was published in the journal Pharmaceuticals. Some research suggests that…
News
Muscle stimulation through focal vibrations produced by a specialized device may prevent further deterioration of motor function in children with cerebellar ataxia, but not in Friedreich’s ataxia patients, according to a small study. The study, “Non-invasive Focal Mechanical Vibrations Delivered by Wearable Devices: An Open-Label Pilot Study…
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…
Vitamin E can be used to help restore the irregular balance of calcium that contributes to mitochondrial dysfunction in neutron and heart cell models of Friedreich’s Ataxia. The study with that finding, “Calcium Deregulation: Novel Insights to Understand Friedreich’s Ataxia Pathophysiology,” was published in the journal Frontiers in…
Central nervous system (CNS) damage in Friedreich’s ataxia (FA) starts in the spinal cord and specific brain areas in children, progressing to more widespread white and grey matter injury in adults, according to a new imaging study. The findings could lead to biomarkers for future studies and indicate that…
A noninvasive assessment of the nerve structures in the superficial membrane of the eye, known as the cornea, can help quantify the severity of nerve cell damage in patients with Friedreich’s ataxia, researchers suggest. This finding was reported in the study, “Corneal Confocal Microscopy: Neurologic Disease Biomarker…
Serious games (SG) — video games designed with a primary purpose other than pure entertainment — are a reliable assessment tool for motor function in patients with advanced Friedreich’s ataxia (FA). This functional evaluation can also be used during rehabilitation therapy with the patient seated in a wheelchair. The study, “Automated functional…
Pharmacological screening in a fly cardiac model of Friedreich’s ataxia (FA) identified 11 potentially protective compounds. The two most promising are the anti-inflammatory Azulfidine (sulfasalazine) and the antidepressant Luvox (fluvoxamine), according to the researchers. The study “Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model…
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…
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…