Clinical Burden of Rare Genetic Disorder Weighed by Analysis Group Researchers
July 23, 2025
Friedreich ataxia (FRDA) is a rare terminal disorder that is associated with debilitating comorbidities, including cardiomyopathy, diabetes, and quadriplegia. Since there is no known cure, management of FRDA focuses on supportive symptomatic care. The first therapy for FRDA, omaveloxolone, received approval from the US Food and Drug Administration (FDA) in 2023 and is a promising new treatment option. However, there is limited longitudinal real-world data on the clinical burden of the disorder, which can prevent meaningful comparisons of FRDA treatments.
To establish a basis for understanding the evolving treatment landscape and its impact on patients with FRDA, an Analysis Group team led by Managing Principal Hongbo Yang, Manager Su Zhang, Associate Anya Jiang, and Senior Analyst Qi Hua collaborated with researchers from the Ronald Reagan UCLA Medical Center, Biogen, and the Children’s Hospital of Philadelphia on a study of clinical outcomes for patients with FRDA. In the study, the researchers compared real-world outcomes for patients with FRDA against control groups of patients without the disorder who had similar demographic characteristics. They found that patients with FRDA experienced more comorbidities, worse well-being, and an elevated risk of mortality, as compared to those in the matched cohorts. In an article on their research, the authors conclude that “the high rates of clinical complications and progression of disability among patients with FRDA underscore the unmet needs for effective treatments to improve overall outcomes in this population.”
The article, “The clinical burden of Friedreich ataxia in the United States: A retrospective claims database analysis,” was published in the Journal of the Neurological Sciences.