News

Originally established in 2001 by two patient organisations: Association Française contre les Myopathies (AFM) and the European Organisation for Rare Diseases (EURORDIS), EuroBioBank is a unique network of biobanks that stores and distributes quality DNA, cell and tissue samples for scientists conducting research on rare diseases (RDs), including neuromuscular…

Retrope, Inc., a privately held clinical-stage pharmaceutical company leading the advance of a revolutionary new unifying theory of aging and degeneration, has just opened patient enrolment for a 28-day, first-in-human, randomized, double-blind, controlled, ascending dose study of oral drug RT001. The study aims to determine the drug’s safety, tolerability and pharmacokinetic profile,…

The Minneapolis, Minnesota based National Ataxia Foundation and Ataxia organizations around the world have dedicated September 25, 2015 as the 16th annual International Ataxia Awareness Day (IAAD) help raise awareness about ataxia. Most people have likely never heard of ataxia, which refers to a group of rare and often fatal…

Gene-therapy specialist company, AAVLife, recently acquired a patent from the United States Patent and Trademark Office for an experimental treatment of cardiomyopathy caused by the genetic disorder, Friedreich’s ataxia, which affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time and commonly…

A collaborative team of international researchers led by the Don Carlo Gnocchi Onlus Foundation, in Milan, Italy have shown that outcomes measured using robotic devices can improve the sensitivity of clinical evaluations for patients with Friedreich’s Ataxia (FA) in regards to dexterity and disease progression over time.  The study, entitled,…

A study published in the journal Nature Medicine reported a promising gene therapy approach for the heart condition associated with Friedreich’s ataxia in an animal model. The study entitled “Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of…

Researchers at the University of Valencia in Spain and Baylor College of Medicine in the United States recently discovered a new pathway involved with Friedreich’s ataxia pathogenesis, providing new therapeutic targets for the disorder. The study was published in the journal PLoS One and is entitled…

A study recently published in the journal The Cerebellum assessed the genetic expression of particular genes putatively related to Friedreich’s ataxia disease. The study is entitled “Gene Expression Profile in Peripheral Blood Cells of Friedreich Ataxia Patients” and was developed by researchers at…

A study published in the Journal of Neurology, Neurosurgery and Psychiatry analyzed the performance of four different tools in the assessment of disease progression in Friedreich’s ataxia patients. The study is entitled “A study of up to 12 years of follow-up of Friedreich ataxia…

A study led by researchers at the University of Duisburg-Essen in Germany revealed structural and functional alterations in the cerebellum of patients with hereditary ataxia disorders, namely spinocerebellar ataxia (SCA) and Friedreich’s ataxia. The study was published in the journal Brain and is entitled “…