Haji Babar Naseer Sheikh was diagnosed with Friedreich’s ataxia (FA) soon after earning his bachelor’s degree. His worsening neurological symptoms and muscular dystrophy left the young Pakistani man unable to speak and move. But Babar couldn’t find the support he needed in his own country, so he decided to…
Reata Pharmaceuticals has enrolled the first patient in the pivotal Part 2 of its MOXIe study designed to evaluate omaveloxolone (RTA-408) in Friedreich’s ataxia (FA) patients. Omaveloxolone is a small molecule Nrf2 activator. Nrf2 is a transcription factor that activates the activity of genes involved in promoting mitochondrial function.
More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…
As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…
CRISPR Therapeutics has received a grant from the Friedreich’s Ataxia Research Alliance to support its work on gene editing as a potential treatment for the disease. The company will use the Kyle Bryant Translational Research Award on animal studies of CRISPR/Cas9 gene-editing strategies for FA. The size of the grant was not…
The synthetic peptide SS-31 increased production of the frataxin protein that is missing in Friedreich’s ataxia, a Chinese study reports. Researchers said the finding raises the possibility that scientists could develop an FA therapy around SS-31. Peptides occur naturally as components of proteins. The team published its study in the journal…
The U.S. Food and Drug Administration (FDA) has awarded a $2 million, five-year grant to Dr. David Lynch of the Children’s Hospital of Philadelphia to study the natural history of Friedrich’s ataxia (FA) and five other rare diseases. The award is part of the FDA’s Orphan Products Grant Program. “We…
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…
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