Friedreich’s Ataxia Center of Excellence

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The Friedreich’s Ataxia Center of Excellence is a first-of-its-kind collaboration of leading experts in Friedreich’s Ataxia (FA) committed to promoting FA research and clinical care. From initial diagnosis and testing through long-term disease management, the center provides comprehensive care for children and adults from all over the world with this rare, progressive neurogenetic condition. Among the goals and objectives of the Center are adding cardiac expertise in FA research and clinical care, increasing capacity for and opening more clinical trials; creating a dedicated drug discovery unit; exploring new basic research avenues using micro RNA and epigenetics approaches; and establishing a biomarker development program.

Research Project Highlights

Researchers at the Friedreich’s Ataxia Center of Excellence are currently engaged in the following efforts:

  • Body Composition and Energy Expenditure in Friedreich’s Ataxia: This study aims to learn more about body composition and energy needs in patients with FA and is sponsored by the Friedreich’s Ataxia Research Alliance (FARA).
  • Cardiac MRI and Biomarkers in Friedreich’s Ataxia: Our cardiac MRI and biomarkers study is funded by FARA.
  • Cellular Dysfunction in Friedreich’s Ataxia: This study aims to evaluate the causes of cell death in FA and to create cell lines that can be shared with other companies or researchers for FA research and is sponsored by FARA.
  • Examining Features of Disease Progression in Friedreich’s Ataxia: Sponsored by FARA, this research study examines the features of disease progression in FA.
  • Examining the Contribution of Cardiomyopathy to Disease Progression in Friedreich’s Ataxia Patients: The study examines the contribution of cardiomyopathy to disease progression in FA patients and is funded by FARA and the NIH.
  • Metabolic Features of Friedreich’s Ataxia: The purpose of this FARA-funded study is to evaluate the causes of cell death in Friedreich’s ataxia.
  • Mobile Phone Measurements in FA: The mobile phone measurements study is funded by FARA.
  • Natural History Study of Individuals with Friedreich’s Ataxia: The goal of this study, funded by FARA, is to develop measures to assess short-term disease progression in FA.
  • Optical Coherence Tomography in Friedreich’s Ataxia: Co-investigated by the Hospital at the University of Pennsylvania, our optical coherence tomography observational study is meant to help characterize the visual dysfunction sometimes seen in patients with FA.
  • RTA 408 in Friedreich Ataxia: This multi-site, placebo-controlled study for RTA 408 in FA is sponsored by Reata Pharmaceuticals.
  • Friedreich Ataxia Clinical Outcomes Measures: This multicenter natural history and clinical measure study aims to advance clinical care, research, and therapeutic approaches in FA through the development and validation of clinical outcome measures in FA, collection of quantitative serial clinical data on patients, and expansion of our established research network. A secondary objective is to build a parallel DNA and RNA repository for use in large scale translational research including modifier gene studies. We wish to also enroll control subjects for a hearing test and sample collection to compare to data from FA patients.

The Friedreich’s Ataxia Center of Excellence is co-directed by David Lynch, MD, PhD, FA program director at CHOP, and Robert B. Wilson, MD, PhD, professor of Pathology and Laboratory Medicine at the Perelman School of Medicine.