Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia

Ali A, Cheema WA, Nisar F, Reyaz U, Saad M, Talha M, et al. Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia. BMJ Neurology Open. 2026;8:e001670. doi:10.1136/bmjno-2026-001670 

Sensitivity analyses confirmed robustness. Controlled trials demonstrate significant short-term improvement with omaveloxolone, while real-world data show consistent progression at rates substantially slower than natural history. These complementary findings support a disease-modifying effect of omaveloxolone in FRDA.

Swinburne researcher discovers broccoli extract could halt incurable neurological disorder

Newscorp Australia. May 19, 2026.

Associate Professor Faith Kwa leads the Drug Discovery for Chronic Diseases Laboratory at Swinburne University of Technology. Her research focuses on finding new treatments for Friedreich ataxia, a rare inherited genetic condition that currently has no cure. Friedreich ataxia affects around 260 people in Australia and can have devastating consequences.

The next step for Associate Professor Kwa’s team is to secure funding for a clinical trial. The trial would test sulforaphane in patients and determine the most effective doses for treating the condition. This critical clinical study could demonstrate that a compound derived from a common vegetable might help tackle one of the world’s rarest and most challenging diseases – showing that groundbreaking medical discoveries can begin in the most unexpected places. 

Crucially, SF can cross the blood–brain barrier, an advantage lacking in many drugs under investigation for neurodegenerative diseases like Friedreich ataxia (FRDA). FRDA is an inherited, incurable and debilitating condition caused by low levels of a protein known as frataxin. Our laboratory showed that clinically relevant doses of SF not only improve survival of spinal cord cells generated from stem cells taken from FRDA individuals but also increase frataxin levels. 

At approximately $5000 per patient per year, SF is more affordable than the only approved treatment, which costs hundreds of thousands of dollars annually. Sulforaphane exemplifies a future therapy that is sustainable, safe, and accessible to people.

New RESTORE-FA results show DT-216P2 improved balance and fatigue within 4 weeks, with tolerable safety.

NeurologyLive®. May 19, 2026. DT-216P2 Shows Dose-Dependent Frataxin Increases and Clinical Improvements After 4 Weeks of IV Dosing in Friedreich Ataxia.Design Therapeutics has reported positive 4-week biomarker and clinical data from the ongoing phase 1/2 RESTORE-FA clinical trial evaluating DT-216P2, an investigational small-molecule GeneTAC therapy designed to increase endogenous frataxin (FXN) expression by targeting the GAA trinucleotide repeat expansion in the FXN gene—the underlying genetic cause of Friedreich ataxia (FA). 

The data showed dose-dependent increases in FXN mRNA and protein alongside improvements across multiple clinical outcome measures in patients treated with weekly intravenous dosing over 4 weeks.We observed both dose-dependent increases in FXN levels and dose-dependent improvements across multiple clinical measures, including mFARS, upright stability score and patient-reported fatigue.

Based on these findings, we believe DT-216P2 has the potential to be a best-in-disease treatment for patients with FA and look forward to advancing the program toward registrational development.”

Design Therapeutics Announces Four-Week IV Data from the RESTORE-FA Trial of DT-216P2 Demonstrating Clinical Improvements and Comprehensive Biomarker Activity in Friedreich Ataxia

CARLSBAD, Calif., May 18, 2026 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today announced positive biomarker and clinical data from the ongoing Phase 1/2 RESTORE-FA trial evaluating DT-216P2 in patients with Friedreich ataxia (FA). DT-216P2 is a GeneTAC® small-molecule therapeutic candidate designed to increase frataxin (FXN) expression by targeting the GAA repeat expansion in the FXN gene, the genetic root cause of FA. 

Clinical Outcomes After four weeks of DT-216P2 treatment at the 1 mpk dose cohort, patients demonstrated mean improvements from baseline of 6.4 points in the modified Friedreich’s Ataxia Rating Scale (mFARS) and 2.7 points in the Upright Stability Score. Further, DT-216P2 demonstrated changes of greater than five points in patient-reported fatigue, as measured by the PROMIS Fatigue Scale, both at the end of four weeks of treatment and two weeks following the last dose. These data exceeded the three-point threshold generally considered to be a minimal important change in fatigue.

140 Gene therapy for Friedreich ataxia cardiomyopathy: safety and preliminary assessment of efficacy

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026. 

140 Gene therapy for Friedreich ataxia cardiomyopathy: safety and preliminary assessment of efficacy; Ronald G. Crystal, Jonathan W. Weinsaft, Stephen M. Kaminsky, Anthony Caragiulo, Aarti Patel, Ralitza H. Gavrilova, Susan L. Perlman, Udhay Krishnan, Madeline Galbraith, Niamh Savage, Robert J. Kaner, Abraham Sanders, Mary Vo, Harini Sarva, Andrea Yoo, Dolan Sondhi, Bishnu P. De, Gregory Aubert, Aashir Khan, Nithya Selvan, Sandi See Tai, Narinder Bhalla, Eric Adler, Theresa Zesiewicz. 

This interim data suggests that a single intravenous administration of AAVrh.10hFXN to individuals with FA cardiomyopathy is generally safe and biologically active, increasing cardiac FXN expression, improving a key marker of cardiac structure, reducing a serum biomarker relevant to cardiomyocyte integrity and improving or stabilizing neurologic function.

69 Small‑Molecule–regulated RNA switch achieves therapeutically safe levels of Frataxin in mouse models of Friedreich’s Ataxia

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026. 

 69 Small‑Molecule–regulated RNA switch achieves therapeutically safe levels of Frataxin in mouse models of Friedreich’s Ataxia. 69 Small‑Molecule–regulated RNA switch achieves therapeutically safe levels of Frataxin in mouse models of Friedreich’s Ataxia. Jon Dempersmier, Mariam Elhawary, Ian McLachlan, Hayley Ulloa, Kai Li, Diane Hamann, Zhiping Weng, Ricardo Mouro Pinto, Travis Wager, Simon Xi, Sam Hasson; 

Friedreich’s ataxia (FA) represents a compelling use case for regulated gene therapy. FA is an autosomal recessive disorder caused by repeat expansion–mediated silencing of the FXN gene, resulting in impaired iron–sulfur cluster biogenesis, mitochondrial dysfunction, neurodegeneration, and cardiomyopathy. While constitutive AAV-mediated FXN replacement has shown efficacy in preclinical models, excessive Frataxin expression has been associated with cardiotoxicity, highlighting the need for controlled dosing.

This system consists of DNA-encoded regulatory elements, termed RSwitches, which are selectively modulated by matched synthetic small molecules, or RDrugs, in a dose-dependent manner. RDrugs direct specific pre-mRNA splicing events required for productive transgene expression, enabling temporal control on the order of hours and quantitative control of protein output almost five orders of magnitude from AAV vectors.

62 Development and Translation of PPL-001, an autologous, gene-edited CD34+ hematopoietic stem cell Therapy for Friedreich’s Ataxia

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026.  62 

Development and Translation of PPL-001, an autologous, gene-edited CD34+ hematopoietic stem cell Therapy for Friedreich’s Ataxia  Anusha Sivakumar, Colin Exline, Stephanie Cherqui.

 Here, we present a GMP-compliant, commercially/clinically scalable manufacturing process and safety data of PPL-001, aimed at initiating the first-in-human HSPC and genome editing clinical trial for FRDA. 

These promising results of scale-up feasibility and safety support our efforts in clinical translation of CRISPR/Cas9 gene edited CD34+ HSPCs as a novel treatment approach for Friedreich’s ataxia.

Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials

Simona Maccora, Umberto Quartetti, Salvatore Maria Lima, Nicasio Rini, Marco Cucchiara, Luisa Agnello, Caterina Maria Gambino, Filippo Brighina, Marcello Ciaccio, Vincenzo Di Stefano, Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials, Clinical Neurophysiology, 2026, 2111933, ISSN 1388-2457, doi:10.1016/j.clinph.2026.2111933.

Evoked potentials provide accessible, non-invasive, quantitative candidate biomarkers for severity assessment and longitudinal monitoring in FRDA, supporting their use in clinical practice and trial design when fluid markers are inconclusive.

Experimental gene therapy raises hope for children with fatal neurological disease

Brunel University of London. By Press Officen14 May 2026. 

Scientists at Brunel University of London and University College London Great Ormond Street Institute of Child Health have developed an experimental stem cell treatment for Friedreich’s ataxia.

The findings suggest the technique could eventually be delivered using a patient’s own cells, reducing the risk of the body rejecting the therapy after transplantation.The researchers removed blood-forming stem cells and modified them in the laboratory using a virus to deliver an engineered frataxin protein.  This new engineered version of frataxin can be secreted by blood cells and absorbed by other tissues, allowing it to reach vital organs such as the brain, heart and muscles.

Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich’s ataxia

Ibáñez-Cabellos, J.S., Baviera-Muñoz, R., Alemany-Perna, B. et al. Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich’s ataxia. Sci Rep 16, 15056 (2026). doi:10.1038/s41598-026-50975-4 

 This study validates a genetic blood "signature" that assists clinicians in identifying patients with Friedreich's Ataxia (FRDA) who are developing cardiac or metabolic complications. 

The research explores the use of microRNAs as non-invasive biomarkers, aiming to identify blood indicators more accurate than current standards, such as troponin, for diagnosing hypertrophic cardiomyopathy and diabetes. 

 Notably, the combination of two specific microRNAs (miR-323a-3p and miR-625-3p) demonstrated a superior ability to classify and predict HCM, outperforming traditional protein biomarkers. 

Furthermore, the study confirmed that other microRNAs, such as miR-128-3p and miR-130b-5p, are significantly elevated in patients suffering from both ataxia and diabetes.

Pharmacological treatments for Friedreich ataxia ( Cochrane Database of Systematic Reviews 2026)

Lyons S, Kearney M, Fahey MC, Janjal P, Pandolfo M, Patton P. Pharmacological treatments for Friedreich ataxia. Cochrane Database of Systematic Reviews 2026, Issue 5. Art. No.: CD007791. DOI: 10.1002/14651858.CD007791.pub5. Accessed 12 May 2026.

In this updated Cochrane systematic review, meta‐analysis of results on the ataxia rating scale showed that pharmacological treatments probably make little or no difference compared with placebo after 12 months of treatment. Given this result, the probable improvement that we found in upper limb dexterity was unexpected. Treatment‐emergent adverse events leading to cessation of medication or death may be no more common in treatment groups than placebo groups as there were few adverse events detected in the treated groups. However, the studies may not have detected all rare and serious adverse events.

Transcription and Cohesin Direct Domain Boundary Spatial Positioning and are Linked to Friedreich's Ataxia

Ashley Karnay, Ricardo Linares-Saldana, Qiaohong Wang, Zachary Gardner, Jialiu A. Liang, Garrett T. Santini, Krishna Kumar Haridhasapavalan, Son C. Nguyen, Siewert Hugelier, Bhavana Shewale, Masato T. Kanemaki, Jill S. Napierala, Marek Napierala, Robert B. Wilson, Nicole Dubois, Andrey Poleshko, Wonho Kim, Parisha P. Shah, Melike Lakadamyali, Eric F. Joyce, Rajan Jain, Transcription and cohesin direct domain boundary spatial positioning and are linked to Friedreich’s ataxia, Molecular Cell, 2026, DOI: 10.1016/j.molcel.2026.04.019. 

These results suggest that gene silencing in Friedreich's ataxia is reinforced by where the gene sits in the nucleus," said Ashley Karnay, Ph.D., a postdoctoral fellow in Cardiovascular Medicine and Cell & Developmental Biology and the study's lead author. "By changing that positioning, we can partially restore FXN gene activity in diseased cells." 

 While the findings are early and not a treatment, they point to genome organization itself as a contributor to disease and raise the exciting possibility that future therapies could work by changing how the DNA is organized inside the nucleus.

442 FRATAXIN IS DOWNREGULATED IN COLONIC INFLAMMATION DISRUPTING EPITHELIAL HOMEOSTASIS

Mo Wang, Xinqian Meng, Qiong Guo, Chunyan Peng, LEI WANG; 442 FRATAXIN IS DOWNREGULATED IN COLONIC INFLAMMATION DISRUPTING EPITHELIAL HOMEOSTASIS, Gastrointestinal Endoscopy, Volume 103, Issue 5, Supplement, 2026, Page S-882, ISSN 0016-5107, doi: 10.1016/S0016-5107(26)02275-3. 

This study identifies a novel link between frataxin (FXN) and ulcerative colitis (UC), demonstrating that its role extends beyond the nervous system and heart to intestinal health.

In Colonic Inflammation, FXN levels are drastically reduced in the colonic mucosa of patients with active UC, lower frataxin levels correlate directly with increased inflammatory severity.

Pathogenesis, FXN deficiency triggers mitochondrial energy failure and oxidative stress within the gut, compromising the epithelial barrier and inducing cell death. 

Conclusion: Frataxin is essential for colonic homeostasis. This suggests the FXN pathway as a potential therapeutic target for inflammatory bowel diseases and provides a mechanistic explanation for gastrointestinal complications in Friedreich’s Ataxia patients.

CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats

Annear DJ, Vandeweyer G, Kooy RF. CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats. BMC Genomics. 2026 Feb 18;27(1):302. doi: 10.1186/s12864-026-12651-9. PMID: 41709137; PMCID: PMC13020279. 

This paper offers a new genomic perspective on Friedreich's Ataxia by analyzing the behavior of the GAA triplet in comparison to other pathogenic repeats (such as Huntington's CAG).

This study highlights that Friedreich's Ataxia (FRDA) is unique due to the specific nature of the GAA repeat, setting it apart from other repeat-expansion diseases:

- Extreme Instability: GAA is the most abundant and polymorphic triplet in the human genome, explaining its intrinsic tendency for the pathological expansion found in the FXN gene. 

- Key Location: Unlike other repeats, GAA sequences are concentrated in introns, validating why FRDA results in gene silencing rather than direct protein alteration. 

FRDA is not merely a genetic error but a consequence of the evolutionary fragility of the GAA sequence, necessitating DNA-stabilization-specific therapeutic

Comprehensive Review of Anesthetic Strategies for Patients With Neurodegenerative Diseases

Grabarczyk Ł. Comprehensive Review of Anesthetic Strategies for Patients With Neurodegenerative Diseases. Med Sci Monit. 2026 Apr 11;32:e950453. doi: 10.12659/MSM.950453. PMID: 41964193; PMCID: PMC13081753.

This article aims to review the perioperative anesthetic management of patients with NDDs, including Huntington disease, (spino)cerebellar ataxia, Friedreich ataxia, Creutzfeldt-Jakob disease, and amyotrophic lateral sclerosis.

Friedreich Ataxia (Book)

Williams CT, Maheshwary A.; Friedreich Ataxia. 2026 Mar 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–. PMID: 33085346. 

Friedreich ataxia (FRDA) represents the most common inherited form of ataxia, accounting for approximately 50% of all ataxia cases. Currently, the prevalence in the United States ranges from 1 in 30,000 to 50,000 individuals, with higher rates in Europe. First described in 1863 by the German clinician Nikolaus Friedreich...

Home-Based Telerehabilitation for Core Stability in Hereditary Ataxia: Feasibility and Preliminary Effects of a Pilot RCT

Masbernat-Almenara M, Peláez-Hervás S, Fernández-Lago H, Serra-Rusiñol L, Rubí-Carnacea F, Martínez-Navarro O, Tersa-Miralles C, Muñoz E, Rubinat-Arnaldo E, Cabanas-Valdés R. Home-Based Telerehabilitation for Core Stability in Hereditary Ataxia: Feasibility and Preliminary Effects of a Pilot RCT. NeuroRehabilitation. 2026 May;58(3):440-452. doi: 10.1177/10538135261431333. Epub 2026 Apr 8. PMID: 41949495. 

Core stability exercises (CSE) have shown efficacy in improving trunk function in individuals with hereditary ataxia (HA), but adherence to home programs is often low. Telerehabilitation (TR) could facilitate remote program delivery.

MuFaDDG: A Sequence-Based Multiscale Feature Fusion Framework for Protein Stability Changes Prediction

Gong J, Ma P, Ren Z, Li S, Fu Z, Sun P, Ni M, Bo X. MuFaDDG: A Sequence-Based Multiscale Feature Fusion Framework for Protein Stability Changes Prediction. Bioinformatics. 2026 Apr 29:btag196. doi: 10.1093/bioinformatics/btag196. Epub ahead of print. PMID: 42057285.  

The study introduces MuFaDDG, a sequence-based tool for predicting protein stability changes. Frataxin was used as the primary case study (via the CAGI5 challenge) to validate the model's performance. MuFaDDG achieved high accuracy (ACC: 0.81) in predicting how mutations affect frataxin's stability, outperforming existing state-of-the-art methods.Conclusion: The model proves highly effective at identifying destabilizing mutations in frataxin, which is critical for understanding diseases like Friedreich's Ataxia.

Integrative network pharmacology delineates dual GPCR and non-GPCR mechanisms of blended and individual Taikong Blue lavender and Pingyin rose essential oils in neurodegenerative and psychiatric disorders

Raka RN, Zhang Z, Xiao J, Wu H. Integrative network pharmacology delineates dual GPCR and non-GPCR mechanisms of blended and individual Taikong Blue lavender and Pingyin rose essential oils in neurodegenerative and psychiatric disorders. Comput Biol Med. 2026 May 15;208:111681. doi: 10.1016/j.compbiomed.2026.111681. Epub 2026 Apr 14. PMID: 41985299.  

The article explores the relationship with Friedreich's Ataxia through integrative network pharmacology. Friedreich's Ataxia is analyzed as one of the key neurodegenerative disorders sharing molecular pathways like oxidative stress and neuroinflammation. 

The study identifies specific compounds in essential oils that target proteins linked to the disease, suggesting a multi-target computational framework for potential neuroprotective treatments. It focuses on how these compounds interact with GPCR and non-GPCR targets to potentially modulate the biological dysfunctions seen in ataxia patients.

Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia

Ali SAH, Early J, Farmer JM, Gelbard S, Corben L, Rance G, Lynch DR. Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia. Cerebellum. 2026 Apr 24;25(3):60. doi: 10.1007/s12311-026-02000-7. PMID: 42029806; PMCID: PMC13109125. 

 LiSN -S testing captures audiologic dysfunction in FRDA in a manner that appears to dependent on genetic severity and to a lesser degree time.

Hypomagnetic Field Exposure Alters Iron-Sulfur Homeostasis and Oxidative Balance in a Frataxin-Deficient Insect System

Kang HM, Li B, Yan S, Zhang LL, Wan GJ, Zhang JZ, Pan WD. Hypomagnetic Field Exposure Alters Iron-Sulfur Homeostasis and Oxidative Balance in a Frataxin-Deficient Insect System. Insects. 2026 Apr 1;17(4):373. doi: 10.3390/insects17040373. PMID: 42042415; PMCID: PMC13116274. 

 HMF elevated reactive oxygen species (ROS) in frataxin-deficient brains. Transcriptomic analysis identified 202 differentially expressed genes under HMF in frataxin-silenced flies, including key regulators of iron metabolism and oxidative stress pathways. These findings demonstrate that HMF disrupts tissue-specific iron and sulfur homeostasis and intensifies oxidative stress in a frataxin-deficient insect system, underscoring its role as an environmental factor capable of aggravating metabolic fragility.

Astrocytic frataxin deficiency drives neurocognitive impairment in sickle cell mice

Novelli EM, Lenhart SC, Foley LM, Sekar N, Mondal P, Wang H, Hitchens TK, Ghosh S, Chan SY, Hu X, Hazra R. Astrocytic frataxin deficiency drives neurocognitive impairment in sickle cell mice. PNAS Nexus. 2026 Apr 8;5(4):pgag106. doi: 10.1093/pnasnexus/pgag106. PMID: 42037666; PMCID: PMC13108596. 

 Herein, we report that sickle cell mice (SS) have reduced expression of frataxin (FXN), a mitochondrial protein, in their astrocytes compared with normal control (AA) mice. A newly generated sickle bone marrow chimeric mouse with astrocyte-specific deletion of FXN (SSFXN-KO) showed worsening white-matter neuroaxonal damage compared with the normal mice lacking astrocytic FXN (AAFXN-KO) as well as with the SS mice with wild-type FXN expression (SSFXN-WT). The SSFXN-KO mice exhibited impaired cognitive function assessed by the functional novel object recognition (NOR) tests. Induction of FXN improved cognitive responses in the SS mice. Overall, our data demonstrate that astrocytic FXN plays a pivotal role in regulating neuroaxonal health and cognitive function in SCD.

BRD4 recruitment desilences transcription without erasure or depletion of repressive chromatin

BRD4 recruitment desilences transcription without erasure or depletion of repressive chromatin. Christopher J. Brandon, Sarah Robinson-Thiewes, Mangesh Kaulage, Wojciech Rosikiewicz, Matthew J. Cuneo, Joseph Brett, Jindpreet Kandola, Walter H. Lang, Jonathan Low, Ashraf Mohammed, Adithi Danda, Sam Rider, Marcus Valentine, Jason Ochoada, Brandon Young, Theresa Nguyen, Sandra J. Kietlinska, Aaron B. Taylor, Burkhard Hoeckendorf, Patrick Rodrigues, Wenwei Lin, Khaled Khairy, Beisi Xu, Anang A. Shelat, Taosheng Chen, Tanja Mittag, Aseem Z. Ansari bioRxiv 2026.04.10.717856; doi:10.64898/2026.04.10.717856

We find that BRD4 readily partitions into phase separated HP1 condensates in vitro and into HP1 puncta in patient-derived cells, thus presenting a mechanistic explanation for desilencing transcription without the dispersal of mesoscale repressive chromatin. Epigenetic drugs that gate sequential steps in transcription, synergistically stimulate FXN expression while concomitantly increasing, rather than eliminating, repressive H3K9me3 and HP1 levels. More broadly, this study highlights the dynamic nature of repressive chromatin and the context-dependence of epigenetic marks in regulating gene expression.

Modeling Friedreich’s ataxia with Bergmann glia-enriched human cerebellar organoids

Ryu, S., Inman, J., Hong, H. et al. Modeling Friedreich’s ataxia with Bergmann glia-enriched human cerebellar organoids. Commun Biol (2026). doi:10.1038/s42003-026-10180-5 

Furthermore, by generating hCBOs from patients with Friedreich’s ataxia (FRDA), we reveal disease-specific phenotypes that can be reversed by histone deacetylase (HDAC) inhibitors and gene editing by CRISPR-Cas9. Taken together, our advanced hCBO model provides new opportunities to investigate the mechanisms of cerebellar ontogenesis and utilize patient-derived iPSCs for translational research.

Glial-specific mitochondrial failure and redox imbalance drive regional vulnerability in Friedreich ataxia

Glial-specific mitochondrial failure and redox imbalance drive regional vulnerability in Friedreich ataxia. Arabela Sanz-Alcazar, Marta Portillo-Carrasquer, Israel Manjarres-Raza, Maria Pazos-Gil, Fabien Delaspre, Jordi Tamarit, Juan P. Bolanos, Joaquim Ros, Elisa Cabiscol; bioRxiv 2026.05.01.722124; doi:10.64898/2026.05.01.722124 

 These results highlight the vulnerability of sensory neurons and their supporting satellite glial cells. In contrast, in the cerebrum and cerebellum, astrocytes displayed earlier and more severe alterations than neurons, including impaired respiratory chain efficiency, disrupted complex I-III supercomplex interaction, elevated ROS, and hallmarks of ferroptosis. Neuronal abnormalities emerged later, suggesting that glial dysfunction precedes -or drives- neuronal pathology within the central nervous system. Overall, these findings reveal pronounced region and cell-type-specific vulnerabilities in FA and support the importance of targeting glial mechanisms -particularly iron dysregulation, oxidative stress, and ferroptosis- as targets for potential therapeutic strategies.

Voyager Reports First Quarter 2026 Financial and Operating Results

LEXINGTON, Mass., May 07, 2026 (GLOBE NEWSWIRE) -- Voyager Therapeutics, Inc Neurocrine partnership update: Neurocrine completed GLP toxicology with NBIB-‘223 for Friedreich’s ataxia (FA) and received FDA orphan drug designation. Neurocrine has stated that it intends to initiate a clinical trial with NBIB-‘223 in H2 2026, pending successful FDA IND clearance.

Solid Biosciences Testing Dual Delivery Gene Therapy in First-in-Human Friedreich's Ataxia Trial

Precision Medicine Online. Apr 16, 2026. NEW YORK – Solid Biosciences is advancing its first-in-human trial of SGT-212, an experimental gene therapy for the rare neuromuscular disorder Friedreich's ataxia. 

The dual route of administration is intriguing to Kisanuki, since Friedreich's ataxia implicates multiple tissues in the body. "If we used just systemic delivery, we might not fully benefit the neuro phenotype," he said. "But if we just focus on brain delivery, we're ignoring the cardiac phenotype."

Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia

Lawson, R., Natarajan, S., Correll, J.R. et al. Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia. J Patient Rep Outcomes (2026). doi:10.1186/s41687-026-01067-4  

Friedreich ataxia (FA) is a hereditary degenerative disease with clinical manifestations in multiple organs characterized by progressive gait and limb ataxia. Qualitative interviews were conducted with patients and caregivers to characterize the burden experienced related to FA symptoms and impacts.

PO-04-187 OVERACTIVITY OF MONOAMINE OXIDASE A IN A MOUSE MODEL OF FRIEDREICH’S ATAXIA CONTRIBUTES TO CATECHOLAMINERGIC ARRHYTHMIAS AND OXIDATIVE STRESS

Figueroa F, Bahriz S, Sellers R ... PO-04-187 OVERACTIVITY OF MONOAMINE OXIDASE A IN A MOUSE MODEL OF FRIEDREICH’S ATAXIA CONTRIBUTES TO CATECHOLAMINERGIC ARRHYTHMIAS AND OXIDATIVE STRESS Heart Rhythm, 23S711. doi:10.1016/j.hrthm.2026.03.1185 

 These findings identify impaired SR-localized β1AR signaling as a novel mechanism driving catecholaminergic arrhythmias in FA. Combined targeting of MAO-A and Nrf2 yields complementary benefits: clorgyline improving autonomic balance and OMAV enhancing redox defense, thereby restoring cardiac conduction and contractile function in FA hearts.

Dimethyl Fumarate Normalizes Expression of Friedreich Ataxia Gene

Neurology Today - American Academy of Neurology; APRIL 20, 2026,  Dan Hurley. 

Dr. Gramaglia said some patients already on omaveloxolone might be interested in combining it with DF. But “we don’t know if DMF as an add-on therapy with omaveloxolone would result in clinical improvements over either one individually,” she added. “We need to study it.”

Efficacy and Safety of Dimethyl Fumarate in Friedreich Ataxia: Primary Results From the Phase Two, Randomized, Double-blind, Placebo-controlled DMF-FA-201 Trial

S26 - Movement Disorders: Clinical Trials and Therapeutics. American Academy of Neurology. Francesco Sacca et al. 

DMF significantly increases transcription of the FXN gene, with long-term stability, to a degree that restores expression levels to those of healthy carriers. The drug appeared safe, with adverse events consistent with DMF pharmacovigilance.

Clinical Challenges in Managing Diabetes Mellitus in Friedreich’s Ataxia

Clinical Challenges in Managing Diabetes Mellitus in Friedreich’s Ataxia. Aarya Naik, Hooman Oktaei, Endocrine Practice , 32, S66-S67.   Doi:10.1016/j.eprac.2026.01.168 

In patients with FRDA, hyperglycemia generally develops at an average of 15 years after the onset of neurologic symptoms. Diabetes onset is often acute and ketosis-prone; appropriate management includes insulin at diagnosis. Past research has shown that often, the first presentation of diabetes in FRDA is ketoacidosis. In any given patient, diabetes may result from defects in insulin secretion by the pancreatic β-cells, impaired insulin action, or both. In FRDA, both insulin deficiency and insulin resistance have been reported.

Because metformin inhibits complex I of the mitochondrial respiratory chain, it should be used with caution. Exogenous insulin administration is often the best choice of treatment for FRDA patients. Regular screening for onset of diabetes as well as early initiation of insulin therapy should be part of overall management of FRDA.

Beyond the Diagnosis of Friedreich’s Ataxia: International Cultural Factors in Patient Decisions

Lauren Mitchell, Cara Stricklin, Nikola Dragojlovic, Beyond the Diagnosis of Friedreich’s Ataxia: International Cultural Factors in Patient Decisions, Archives of Physical Medicine and Rehabilitation, Volume 107, Issue 5, 2026, Page e42, ISSN 0003-9993, doi:10.1016/j.apmr.2026.02.108. 

To investigate the effectiveness of multiple interventions by an interdisciplinary team aimed at improving the functional level of a young woman with Friedreich's Ataxia (FA). Multiple interventions were trialed to include: neurolytic injections, high intensity gait training with various devices, various custom and prefabricated orthoses, neuromuscular re-education, a swallow study, expiratory muscular strength training, familial psychoeducation and community reintegration.

TLR4-mediated neuroimmune signalling drives proprioceptive neuron degeneration in Friedreich ataxia

TLR4-mediated neuroimmune signalling drives proprioceptive neuron degeneration in Friedreich ataxia, Deepika Mokkachamy Chellapandi, Peio Antoine-Uhart, Federica Pilotto, Helene Puccio. bioRxiv 2026.04.28.721289; doi:10.64898/2026.04.28.721289. 

 We identify Toll-like receptor 4 (TLR4) signaling as a key link between neuronal dysfunction and inflammatory response. Inhibition of TLR4 reduces cellular stress, restores neuronal integrity, and delays disease progression in vivo. These findings redefine FA as a disorder involving neuroimmune crosstalk and highlight TLR4 signaling as a potential therapeutic target.