357PLong-term vatiquinone treatment slows Friedreich’s ataxia disease progression relative to FACOMS natural history

357PLong-term vatiquinone treatment slows Friedreich’s ataxia disease progression relative to FACOMS natural history. Vagabov, A. et al. Neuromuscular Disorders, Volume 53, 106087 DOI:10.1016/j.nmd.2025.106087 

 The results of the extension studies provide further evidence of the potential benefit of vatiquinone for the treatment of FA. The pre-specified endpoints for two different long-term extension studies were met, with highly statistically significant evidence of durable treatment benefit in slowing disease progression in paediatric and adult patients.

234PLong-term use of omaveloxolone in patients with Friedreich ataxia: up to 5 years of natural history propensity score matching from the MOXIe OLE

234PLong-term use of omaveloxolone in patients with Friedreich ataxia: up to 5 years of natural history propensity score matching from the MOXIe OLE. Nachbauer, W. et al.. Neuromuscular Disorders, Volume 53, 106043 doi:10.1016/j.nmd.2025.106043 

 Continued analysis of the MOXIe OLE data informs on long-term efficacy and safety of omaveloxolone in patients with FA and provides relevant insights regarding disease progression in patients treated with omaveloxolone relative to the natural pattern of FA progression in the FACOMS cohort.

Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction

Pichakacheri Sureshkumar, Sidharth S Kumar, Johny Cheriyan, Asif Masood, Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction, JCEM Case Reports, Volume 3, Issue 11, November 2025, luaf215, doi:10.1210/jcemcr/luaf215 

 This case report discusses a 32-year-old woman with Friedreich ataxia (FA) and suboptimally managed diabetes mellitus (DM), focusing on a treatment strategy aimed at improving mitochondrial function for better glycemic control and symptom management. Her regimen included insulin, a dipeptidyl peptidase-4 (DPP-4) inhibitor, neurotropic vitamins, and mitochondriotropic agents and antioxidants, specifically L-carnitine, coenzyme Q10 (CoQ10), and vitamin E. Imeglimin, a mitochondriotropic antihyperglycemic agent, was also part of her regimen.

357P Long-term vatiquinone treatment slows Friedreich’s ataxia disease progression relative to FACOMS natural history

A. Vagabov, J. Cherry, A. Duqette, M. França, S. Perlman, A. Durr, E. Bertini, K. Mathews, L. Schöls, A. Fournier, M. Delatycki, S. Subramony, R. Roxburgh, M. Rance, O. Zhang, L. Golden, J. Gruenert, C. Werner, D. Lynch, T. Zesiewicz, 357PLong-term vatiquinone treatment slows Friedreich’s ataxia disease progression relative to FACOMS natural history, Neuromuscular Disorders, Volume 53, Supplement, 2025, 106087, ISSN 0960-8966, doi:10.1016/j.nmd.2025.106087. 

 Vatiquinone (EPI-743) is an investigational, oral, first-in-class 15-lipoxygenase inhibitor being developed for the treatment of patients with Friedreich’s ataxia (FA). Here, we report long-term results of vatiquinone treatment in patients with FA from the MOVE-FA extension study (36 months) and Study EPI-2010-006 (24 months), compared with matched natural history cohorts from FACOMS (Friedreich Ataxia Clinical Outcome Measures). MOVE-FA (NCT04577352) was a global phase 3 study of vatiquinone in patients with FA aged ≥ 7 years (N = 143; mean age: 18.7 years); participants who completed MOVE-FA were eligible to rollover into the long-term extension (NCT05515536). EPI-2010-006 (NCT01728064) was a phase 2 study of vatiquinone in adult patients with FA ≥ 18 years (N = 63; mean age: 28.9 years). The pre-specified primary endpoint for these analyses was the modified Friedreich’s Ataxia Rating Scale (mFARS). After 36 months in the MOVE-FA long-term extension study, participants in the vatiquinone treatment group demonstrated a 3.75-point increase in mFARS. The matched FACOMS cohort progressed by 7.48 points over the same period. Vatiquinone treatment resulted in a 3.7-point benefit (p < 0.0001, n = 70) in mFARS relative to FACOMS, representing a clinically meaningful 50% slowing of disease progression over 3 years. Following 24-months of treatment with vatiquinone in EPI-2010-006, participants demonstrated a 0.92-point decrease in mFARS while participants in the matched FACOMS cohort progressed by 3.89 points. This resulted in a 4.8-point treatment benefit (p < 0.0001, n = 41), consistent with a 2-year delay in progression. The results of the extension studies provide further evidence of the potential benefit of vatiquinone for the treatment of FA. The pre-specified endpoints for two different long-term extension studies were met, with highly statistically significant evidence of durable treatment benefit in slowing disease progression in paediatric and adult patients.

Emerging therapies for Friedreich Ataxia and the prospect of future combination treatments

Lees, J. G., Li, L., & Lim, S. Y. (2025). Emerging therapies for Friedreich Ataxia and the prospect of future combination treatments. Future Rare Diseases, 5(1). doi:10.1080/23995270.2025.2563497

Although no single therapy has yet delivered a cure, the growing understanding of FRDA’s underlying mechanisms, coupled with an expanding therapeutic arsenal and more refined clinical measures, offers genuine hope that transformative, life-changing treatments are within reach. Realizing this promise will depend on continued collaboration among patients, clinicians, researchers, industry, and regulatory stakeholders to ensure that scientific advances translate into tangible, meaningful benefits for the FRDA community.

Larimar Therapeutics Announces Positive Data from Ongoing Long-term Open Label Study and Updates to Nomlabofusp Program for Friedreich’s Ataxia

BALA CYNWYD, Pa., Sept. 29, 2025 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Larimar) (Nasdaq: LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced positive 25 mg and 50 mg data from the ongoing long-term open label (OL) study evaluating daily subcutaneous injections of nomlabofusp self-administered or administered by a caregiver in participants with Friedreich’s ataxia (FA), a rare, progressive, and systemic disease with neurologic deterioration. The Company also provided a nomlabofusp development program update.

Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants

Correa-Arrieta C, Castellar-Leones S, Ruiz-Ospina E, Villamil-Osorio M, Bobadilla-Quesada EJ, Ortiz-Corredor F. Friedreich's Ataxia in Colombia: A Population-Based Study of Incidence and Socioeconomic Determinants. Mov Disord. 2025 Sep 19. doi: 10.1002/mds.70033. Epub ahead of print. PMID: 40970480. 

Ninety-two genetically confirmed cases were identified across 17 departments. Bogotá registered the most cases (32.6%), whereas Vichada showed the highest adjusted cumulative incidence (58.33 per million). The 10-19-year group accounted for the largest share of diagnoses (35.9%); 23.9% were diagnosed at ≥40 years. Marked social vulnerability was observed: 27.2% had no formal education and 60.9% were outside the labor force.

Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study

Petrillo S, Mongelli A, Castaldo A, Sarro L, Azzarelli S, Ronco R, Castellotti B, Gellera C, Piemonte F, Mariotti C. Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study. Brain Commun. 2025 Sep 10;7(5):fcaf331. doi: 10.1093/braincomms/fcaf331. PMID: 40994821; PMCID: PMC12455201. 

 Our study confirms the typical NfL profile in FRDA patients. Our data further support the role of NfL as early indicator of axonal damage and as potential pharmacodynamic biomarker of therapeutical response especially valuable in pediatric populations.

Leriglitazone improves iron homeostasis and ferroptotic markers in frataxin-deficient dorsal root ganglia neurons

Biomed Pharmacother . 2025 Sep 18:192:118553. doi: 10.1016/j.biopha.2025.118553. Online ahead of print. Leriglitazone improves iron homeostasis and ferroptotic markers in frataxin-deficient dorsal root ganglia neurons Marta Portillo-Carrasquer 1, Arabela Sanz-Alcázar 1, Fabien Delaspre 1, Maria Pazos-Gil 1, Luiza Oliveira-Jorge 1, Cristina Vergara 2, Laura Rodríguez-Pascau 3, Pilar Pizcueta 3, Jordi Tamarit 1, Joaquim Ros 1, Elisa Cabiscol 4  DOI: 10.1016/j.biopha.2025.118553

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia, Benkirane, Mehdi et al., Genetics in Medicine, Volume 0, Issue 0, 101588 DOI: 10.1016/j.gim.2025.101588  

Three groups of FRDA patients were identified by the simultaneous analysis of the precise distance (“depth”) between the interruptions (mostly non-triplet) and the 3’ end of the expansion (P < 0.001), the smaller expansion size (P < 0.001), and AAO (P < 0.001). Classical FRDA corresponds to absence of interruption or interruption depth 18 (AUC = 0.97; 95% CI, 0.92-1) and AAO >34 years. Multiple (>5) triplet interruptions hamper further expansion.