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A dozen years ago, Joel Gottesfeld became intrigued with the conclusion of a paper he was editing for the Journal of Biological Chemistry. The article that the Scripps Research Institute scientist was reviewing dealt with the gene that codes for frataxin, an essential protein that’s missing in Friedreich’s…

Many Friedreich’s ataxia patients experience urinary tract symptoms, bowel problems, and sexual dysfunction, which leads to a lower quality of life, research shows. The study, “Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia,” was published in the Orphanet Journal of Rare Diseases. Friedreich’s…

Among all efforts made to advance research and treatment development in Friedreich’s ataxia (FA), one stands out: the Friedreich’s Ataxia Global Patient Registry run by the Friedreich’s Ataxia Research Alliance (FARA). This FA registry aims to collect data from patients worldwide to make clinical trial recruiting a more efficient…

Some 10 years ago, Kyle Bryant and his parents, Mike and Diana, were casting about for a way to make a difference in the fight against Friedreich’s ataxia, the neurodegenerative disorder that Kyle — at age 17 — was diagnosed with in 1998. “We decided that we needed to…

More than 20 presentations at IARC 2017, the recently concluded International Ataxia Research Conference in Pisa, Italy, focused on treatments, demonstrating the progress scientists are making in expanding the therapy pipeline. This observation came from Jennifer Farmer, executive director of the Friedreich’s Ataxia Research Alliance, one of the three…

Protein replacement is one of several cutting-edge approaches to treating ataxias that generated a buzz at IARC 2017, the International Ataxia Research Conference that concluded Saturday in Pisa, Italy. One scientist helping to pioneer this approach is Mark Payne, a pediatric cardiologist, mitochondria expert and Friedreich’s…

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…

Using a gene therapy strategy similar to one previously shown to reverse heart problems in a Friedreich’s ataxia mouse model, researchers also corrected sensory symptoms associated with the disease in another mouse model. These results suggest that gene therapy may effectively treat different features of Friedreich’s ataxia. Hélène Puccio with the Institut de Genetique…

Omaveloxolone (RTA 408), an investigation medicine by Reata Pharmaceuticals, improves neurological function in people with Friedreich’s ataxia, according to results from part one of the MOXIe trial presented today at IARC 2017. David Lynch, a pediatric neurologist at Children’s Hospital of Philadelphia and a principal investigator for the Phase 2 clinical study, delivered these…