Understanding early natural history to facilitate new clinical outcome assessments and trial design in children with Friedreich Ataxia (FRDA)
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Project Summary/Abstract Friedreich ataxia (FRDA) is a rare genetic neurodegenerative condition that has onset in childhood with progression of symptoms leading to loss of ambulation, difficulty performing all activities of daily living, and early mortality. Individuals with an earlier onset of FRDA progress faster neurologically and have higher rates of cardiomyopathy, diabetes, scoliosis, visual loss and mortality. Initiation of treatment early in the course of the disease, prior to significant loss of function and degeneration is highly desirable. The difficulty in conducting clinical trials in children reflects multiple uncharacterized aspects of the early pathophysiology and pediatric phenotype in FRDA. The proposed research, EARLY-FA, will characterize the early natural history of FRDA in 125 children and young adults with FRDA and evaluate novel biomarkers and clinical outcome measures using digital health technologies over a total period of 24 months. This study will also leverage data from a larger global natural history study: UNIFAI. EARLY-FA will focus on three specific aims: • understanding the associations between growth and pubertal development, body composition and FRDA outcome measures, • identifying biomarkers of clinical dysfunction in blood or plasma that correlate with FRDA features like status and severity, and • identifying performance outcome measures of ataxia obtained by a novel digital health technologies: the AIMS systems Outcomes from the EARLY-FA study will help overcome some of the difficulties in conducting clinical trials in children with FRDA and advance the development of treatments for children with this disease.
