Alice Melão,  —

Reata Pharmaceuticals sold some of its shares, generating sales of approximately $115.9 million to be used to support the clinical development of the company’s pipeline, including omaveloxolone, its lead investigative product for Friedreich’s ataxia, according to a press release. Friedreich’s ataxia is caused by a genetic defect…

Two small molecules were shown to increase the mRNA and protein levels of frataxin (FXN) in animal models of Friedreich’s ataxia. According to a report published at Neuropharmacology, these compounds could have therapeutic potential to treat FXN deficits in Friedreich’s ataxia (FA). Friedreich’s ataxia is caused by reduced levels of the mitochondrial…

Friedreich’s ataxia (FRDA) patients have less mitochondria than other people because of the mutation in the frataxin (FXN) gene that is associated with the disorder, according to two studies. University of California at Davis researchers also said that a multiple sclerosis therapy the United States and Europe have already approved…

Friedreich’s ataxia (FRDA) stems from abnormal DNA code expansions in the Frataxin (FXN) gene that collectively reduce the expression of the FXN protein. A new study indicates that small RNA and DNA molecules can interact with FXN repeats to block the formation of the abnormal DNA 3D structures that could be…

Voager Therapeutics has announced that its Friedreich’s ataxia program, VY-FXN01, is taking steps to initiate preclinical tests of its safety and effectiveness, the company expects to achieve in a two-year period the needed requirements to proceed to treatment testing in Friedreich’s ataxia patients. “Voyager’s exceptional performance and accomplishments during…

Researchers at Italy’s IRCCS Santa Lucia Foundation have found that cerebellar atrophy can affect brain structures related to emotions, thinking and memory, which may in part explain ataxia symptoms. Their results suggest that identifying structural alterations in the cerebellum via imaging can help detect cerebellar degeneration and ataxia. These observations in their study, “Impact of…

Patients with Friedreich ataxia (FA) are more likely to develop inflammatory bowel disease and growth hormone deficiency than those without FA, concludes a recent study. Researchers believe that these associations, which may be coincidental or a result of disease interaction or shared genetic features, warrant further research. The study, “Comorbid Medical Conditions…

Recent research in Friedreich’s ataxia (FA) has revealed new possibilities for lipid metabolism as a therapeutic target to slow the progression of the disease in patients. The latest knowledge of the molecular basis of FA and its underlying metabolic alterations was discussed in a review study titled “Oxidative stress…

An Indian population study has shown that a specific mutation in a gene involved in iron regulation, the HFE gene, is seen frequently in patients with Friedreich’s ataxia (FA), and it could be a culprit in damaging the peripheral nerves in FA. The study, “Iron related hemochromatosis (HFE) gene mutations…

Recognizing atypical involuntary movements in childhood autosomal recessive ataxia syndromes can lead to early diagnosis and may allow for more effective treatment of the symptoms, according to a recent review of emerging data. Autosomal recessive cerebellar ataxias (ARCA) are a diverse group of rare, usually inherited conditions that typically appear before age…