Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study

Rummey C, Perlman S, Subramony SH, Corti M, Farmer J, Lynch DR. Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study. J Child Neurol. 2025 Jul 24:8830738251353475. doi: 10.1177/08830738251353475. Epub ahead of print. PMID: 40708339; PMCID: PMC12313166.

The FACHILD natural history study aimed to expand knowledge about the disease course and evaluate clinical outcome assessments in children. We report on functional performance testing, clinical rating scales, and patient-reported outcomes as clinical outcome assessments for Friedreich ataxia. Over a 3-year period, all tests and assessments were conducted to evaluate their sensitivity to progression and correlate with established measures such as neurologic rating scales. 

 Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study

Evaluation of Mitochondrial Complex 1 Density with [18F]BCPP-EF in a Murine Model and Individuals with Friedreich Ataxia

Evaluation of Mitochondrial Complex 1 Density with [18F]BCPP-EF in a Murine Model and Individuals with Friedreich Ataxia. Laigao Chen, Gaia Rizzo, Christine Bulawa, Koene R.A. Van Dijk, Erica C. Henning, Alain Martelli, Jeffrey Palmer, Avery McIntosh, Marko Pregel, Pengling Sun, Emmanuel Adewunmi, Mark Aldridge, Jackson Chan, Roger N. Gunn, Mickael Huiban, Allan Listanco, Peter T. Loudon, Sara Moz, Jan Passchier, Lauren Sauvage, Rachel Stewart, Lisa Wells, Eugenii A. Rabiner, Lawrence R. Charnas, Richard J. Festenstein, Journal of Nuclear Medicine Jul 2025, jnumed.124.268698; DOI: 10.2967/jnumed.124.268698 

 

Loss of frataxin impacts mitochondrial complex 1 (MC1) activity, suggesting MC1 may be a potential biomarker of frataxin levels and function. Biomarkers evaluated by noninvasive techniques are needed to monitor disease progression and treatment effects in people with Friedreich ataxia. MC1 density as measured using [18F]BCPP-EF–based PET may be a viable biomarker of mitochondrial deficit and frataxin levels in people with Friedreich ataxia.