Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich’s ataxia: insights from in vitro models

Edzeamey, F. J., Ramchunder, Z., Valle Gómez, A., Ge, H., Marobbio, C. M. T., Pourzand, C., & Virmouni, S. A. (2025). Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich’s ataxia: insights from in vitro models. Redox Report, 30(1). doi:10.1080/13510002.2025.2505303

Treatment with LAA, NAC, and DMF resulted in significant reductions in mitochondrial and cellular ROS, along with increased FXN and NRF2 expression, and enhanced NRF2 nuclear translocation. Furthermore, these compounds improved aconitase/citrate synthase activity, GSH/GSSG ratios, and mitochondrial membrane potential. Notably, the combination of LAA and NAC consistently alleviated multiple disease-associated defects in FRDA cells, suggesting its potential as a promising therapeutic approach.

Neuromagnetic Responses to Multimodal Stimuli in Friedreich’s Ataxia

Elisa Visani, Laura Canafoglia, Lorenzo Nanetti, Davide Rossi Sebastiano, Dunja Duran, Paola Anversa, Deborah Bonfoco, Sara Dotta, Davide Tabarelli, Anna Castaldo, Gloria Marchini, Alessia Mongelli, Caterina Mariotti, Neuromagnetic Responses to Multimodal Stimuli in Friedreich’s Ataxia, Clinical Neurophysiology, 2025, 2110738, doi:10.1016/j.clinph.2025.2110738. 

 Neuromagnetic responses were identifiable in more than 90% of cases. A significant response delay was observed in all tested modalities (auditory, somatosensory, tactile and visual responses). P300 responses were comparable in patients and healthy subjects. Latencies of visual and auditory responses correlated with SARA scores. Moreover, latencies of auditory responses correlated with disease onset age, whereas latencies of visual responses correlated with disease severity.

Solid Biosciences Reports First Quarter 2025 Financial Results and Provides Business Updates

GuruFocus News. 16/05/2025 

The U.S. FDA has granted IND clearance for SGT-212, intended for treating Friedreich's Ataxia, with first participant dosing anticipated in the second half of 2025.

Neurodegenerative and Metabolic Disease Challenges and Solutions at ASGCT 2025

2025-05-15. ASGCT 2025. Neurodegenerative diseases like ALS, frontotemporal dementia, and Friedreich’s ataxia pose significant challenges with limited treatment options. 

Rgenta’s RSwitch technology offers precise control over FXN expression for Friedreich’s ataxia. It minimizes risks like cardiotoxicity through adjustable dosing via oral RDrugs.

This means that instead of a one-time, permanent change to the gene, RSwitch enables doctors to adjust the therapy’s effects in response to the patient’s needs. The gene therapy approach aims to correct the FXN deficiency, but unregulated FXN overexpression can lead to harmful side effects, including cardiotoxicity (damage to the heart).