News

Biomarin has selected a potential therapy candidate to test in human clinical trials in Friedreich’s ataxia. The compound, BMN 290, turns the frataxin gene back on by altering the three-dimensional structure of the genetic sequence. Tests in animal models of Friedreich’s ataxia show that BMN 290 increases frataxin production…

Transplanting hematopoietic stem and progenitor cells (HSPCs) restored muscle strength and motility function in a mouse model of Friedreich’s ataxia, according to a report published in Science Translational Medicine. Researchers at University of California San Diego School of Medicine showed that HSPCs could restore the activity of mitochondria in…

The European Medicines Agency (EMA) has granted orphan medicinal product designation to Agilis Biotherapeutics’ gene therapy candidate AGIL-FA, being developed for the treatment of Friedreich’s ataxia (FA). FA is a neurodegenerative disease caused by a defect in the frataxin (FXN) gene that reduces production of the…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

A manmade version of the frataxin protein that’s missing in Friedreich’s ataxia increased frataxin levels in the muscles of mice with the disease, increasing their survival, a study found. Scientists used parts of several proteins to create what they called a fusion version of frataxin. The team reported its findings in the…

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…