A compound developed by Repligen Corporation based on work from The Scripps Research Institute laboratory of Professor Joel Gottesfeld has moved into human clinical trials as a potential therapy for the debilitating disease Friedreich’s ataxia. This study is being conducted in Turin, Italy, and is the first clinical trial of a drug that targets the core genetic defect in Friedreich’s ataxia.
Friedreich’s ataxia, which afflicts about one of every 20,000 to 50,000 people in the United States, is caused by an inadequate production of the protein frataxin, which leads to degeneration of nerve tissue and an array of associated complications including heart disease and scoliosis. In most cases, sufferers are ultimately confined to a wheel chair and many die as young adults.
For more information on the Gottesfeld lab’s work, see News &Views articles “Team Implicates Wayward DNA Repair Enzyme in Friedreich’s Ataxia”, “Mechanisms for Friedreich’s Ataxia Uncovered”, and “Scripps Research Team Reverses Friedreich’s Ataxia Defect in Cell Culture”.
For more information on the Phase 1 study, see press releases from Repligen or The Friedreich’s Ataxia Research Alliance.
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