Chad Heatwole, MD

PI/Investigator: Chad Heatwole, MD - University of Rochester Medical Center, NY

Award type: General Research Grant

Grant Title: LEOPARD-FA: Longitudinal Endpoint Optimization to Provide an Assessment of Relevant Drugs in Friedreich’s Ataxia

Summary: Patients with Friedreich’s Ataxia (FA) experience a variety of life-altering symptoms. As new therapies and clinical trials are planned for FA, it is important for researchers, clinicians, patients, and regulatory agencies to have clinical trial tools that are capable of detecting meaningful changes in the symptoms and issues that are most important to patients. Dr. Heatwole previously developed two state-of-the-art outcome measures for patients with FA (The FA Health Indices). The first instrument, the Friedreich’s Ataxia Health Index (FA-HI), measures symptomatic burden using the perspective of the patient. The second instrument, the Friedreich’s Ataxia Caregiver Reported Health Index (FACR-HI), measures symptomatic burden in younger children with FA and is completed by caregivers. Together, these instruments provide a mechanism for a patient’s or caregiver’s perception of the effectiveness of a therapy to be recorded and utilized during a clinical trial. While these instruments are highly reliable, versatile, multifaceted, and relevant to FA patients, they have not yet been evaluated in longitudinal studies. Such assessments are necessary to complete the validation process for the instruments, satisfy FDA guidance criteria for their use in drug-labeling claims, optimize the responsiveness of the instruments, and prepare them for global use as relevant markers of symptomatic disease burden. This research will satisfy existing needs by developing, validating, assessing, and optimizing the responsiveness, relevance, performance, and usability of the FA-Health Indices. Dr. Heatwole’s group will accomplish this using accepted methodology and the parallel utilization of the FA-Health Indices in: 1) An 18-month longitudinal validation study utilizing the FA Global Patient Registry; and, 2) The ongoing Friedreich’s Ataxia Clinical Outcome Measures Study (FACOMS). In addition, natural history data in FA will be collected and analyzed. These data will: 1) demonstrate how disease progresses over time in FA, 2) identify which areas of FA symptomatic burden progress the fastest, and, 3) determine which demographic features are associated with a faster or slower progression of disease. Through this research, these investigators will also generate responsiveness data and performance metrics for the FA-Heath Indices and their subscales to assist in the design of future clinical studies. At the completion of this work, the FA research community will have two fully-validated and patient-centered outcome measures to promote the development of meaningful therapies in FA.