Patricia Inácio, PhD,  science writer—

A group of researchers compiled a database of small RNAs that circulate in the blood of Friedreich’s ataxia (FA) patients with different disease symptoms. Researchers hope this resource will assist research into FA’s mechanisms and possibly identify biomarkers of disease progression and patients’ response to treatment. The study,…

As therapies for Friedreich’s ataxia seek to increase the amount of frataxin, whose shortage underlies the disease, scientists conducting an in vitro study warn that levels of the protein must be tightly regulated because overproduction may result in detrimental effects. The study, “Adding a temporal dimension to the…

Compounds similar to the chemical methylene blue, which has been shown to have therapeutic benefits in several diseases, were seen to increase frataxin levels and the production of mitochondria in Friedreich’s ataxia (FA) cells. The study, “Lipophilic methylene blue analogues enhance mitochondrial function and increase frataxin levels in a…

Retrotope has submitted the design of a pivotal clinical trial for its Friedreich’s ataxia therapy RT001 to the U.S. Food and Drug Administration. The submission was prompted by results of a Phase 1/2 trial showing that the therapy was safe and exhibited early signs of effectiveness — an ability to improve patients’ physical functioning. A…

Results from a Phase 1/2 clinical study support the safety and tolerability of RT001, an investigational therapy for Friedreich’s ataxia. Patients treated with RT001 also were seen to improve in physical functioning tests. The study, “Randomized, clinical trial of RT001: Early signals of efficacy in Friedreich’s ataxia,” was published…

Researchers found that the use of mobility devices is associated with a poorer quality of life in children with Friedreich’s ataxia (FA). The study, “Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia,” was published in the Journal of Child Neurology. Friedreich’s ataxia is a…

EURORDIS-Rare Diseases Europe teamed up with biotech Shire and software giant Microsoft to establish the Global Commission to End the Diagnostic Odyssey for Children to tackle and end the delay in diagnosing rare diseases. Patients with rare diseases such as Friedreich’s ataxia (FA), half of them children,…

Australian researchers say a short-term rehabilitation program improved the health and well-being of a small group of patients with Friedreich’s ataxia (FA). The study, “Can rehabilitation improve the health and well-being in Friedreich’s ataxia: a randomized controlled trial?” appeared in the journal Clinical Rehabilitation. Researchers evaluated the effects…

Administering small molecules that mimic factors naturally found in the brain to a mouse model of Friedreich’s ataxia increased levels of frataxin expression in both the brain and heart — two organs highly affected in people with the disease. The study, “Neurotrophic factor and cytokine mimetics as new potential therapeutic agents for Friedreich’s…

New viral vectors were found to effectively transfer a normal and protein-producing frataxin gene into major tissues affected by Friedreich’s ataxia — including the brain and the heart — in non-human primates, a new study showed. The study was presented by Holger Patzke of Voyager Therapeutics at IARC 2017 in a presentation Saturday titled “Intravenous delivery of AAV gene therapy to…