P602: FXN repeat-primed PCR and long-read sequencing reveal non-canonical repeat expansions,

P602: FXN repeat-primed PCR and long-read sequencing reveal non-canonical repeat expansions, Obadia, Benjamin et al. Genetics in Medicine Open, Volume 4, 104093; DOI: 10.1016/j.gimo.2026.104093 

This study validated the CE-based assay as an efficient and accurate screening method for detecting repeat expansions in FXN. PacBio sequencing revealed that GAA interruptions were present primarily in alleles below 200 repeats in our cohort. Identifying these interruptions may have significant clinical relevance; however, additional larger scale studies and an interpretation paradigm will be needed prior to incorporating interruption data into routine testing.

An exploration of barriers to diagnosis in Friedreich's ataxia

P270: An exploration of barriers to diagnosis in Friedreich's ataxia. Madden, Anna et al.; Genetics in Medicine Open, Volume 4, 103764. doi:10.1016/j.gimo.2026.103764 

Diagnostic delay remains common in FA, with an average delay of over four years between symptom onset and diagnosis. Misdiagnoses, clinician dismissal of symptoms, and genetic testing barriers remain the top three reported barriers among this patient population. These findings highlight key areas for improvement in both clinical recognition and appropriate genetic testing strategies in FA. Targeting efforts that increase awareness of FA signs, symptoms, and appropriate genetic testing with neurologists and geneticists, who are the most common diagnosing providers, may help to reduce diagnostic delay.

Economic Issues and Viability of Gene-Based Molecular Therapies for Cardiovascular Disease

Economic Issues and Viability of Gene-Based Molecular Therapies for Cardiovascular Disease; Hlávka, Jakub, Canadian Journal of Cardiology, Volume 0, Issue 0. doi:10.1016/j.cjca.2026.03.004 

The economic viability of cardiovascular GMTs will therefore hinge on whether their scientific potential can be translated into payment and evaluation frameworks that are compatible with health system budget constraints. This will require coordinated approaches that move beyond traditional single-payer decisions, including alternative payment models that better align upfront costs with verified, durable outcomes, and closer alignment between regulators, health technology assessment bodies, and payers on standards for long-term evidence generation. Without such coordination, particularly under stringent cost-effectiveness requirements applied to large cardiovascular populations, these therapies are likely to remain clinically promising yet economically difficult to integrate into routine care.

Nerve Ultrasound in Patients With Friedreich Ataxia

Kneer K, Stahl JH, Winter N, Wittlinger J, Männlin S, Gasimli T, Schöls L, Fleszar Z, Hayer S, Grimm A. Nerve Ultrasound in Patients With Friedreich Ataxia. Muscle Nerve. 2026 Mar;73(3):395-402. doi: 10.1002/mus.70091. Epub 2025 Dec 4. PMID: 41340583; PMCID: PMC12888831.

Peripheral nerve morphology in FRDA is variable and includes not only nerve enlargement but also nerve atrophy, thus reflecting complex segmental pathology beyond axonal degeneration.

Dual therapy with monoamine oxidase A inhibition and Nrf2 activation improves autonomic nervous system and cardiac function in a mouse model of Friedreich’s ataxia

BPS2026 – Dual therapy with monoamine oxidase A inhibition and Nrf2 activation improves autonomic nervous system and cardiac function in a mouse model of Friedreich’s ataxia. Figueroa, Francisco et al.; Biophysical Journal, Volume 125, Issue 4, 398a - 399a. doi:10.1016/j.bpj.2025.11.2441 

These findings identify SR-localized sympathetic signaling defects as a novel mechanism for arrhythmia in FA hearts. Dual targeting of MAO-A and Nrf2 provides complementary benefits, with clorgyline improving ANS and OMAV driving antioxidant defense, altogether restoring cardiac conduction and function.

Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich Ataxia: evidence from HERMES-edited MR spectroscopy

William Gaetz, Muhammad G. Saleh, Charlotte Birnbaum, Luke Bloy, Timothy P.L. Roberts, David R. Lynch, Myo-inositol elevation as an in vivo marker of reactive gliosis in pediatric Friedreich Ataxia: evidence from HERMES-edited MR spectroscopy, NeuroImage: Clinical, 2026, 103983, ISSN 2213-1582, doi:10.1016/j.nicl.2026.103983. 

These findings support a model of early reactive gliosis in pediatric FRDA, indexed by elevated mI and occurring without statistically significant neuronal loss, (acknowledging that significant reductions in tNAA may require larger samples to resolve), and extend prior cerebellar-focused work to the primary motor cortex. While GSH and GABA + did not differ between groups, the observed mI elevations highlight myo-inositol as a practical in vivo biomarker of astrocytic activation and a candidate marker for disease progression in FRDA. Longitudinal studies are needed to confirm its sensitivity to clinical trajectory and therapeutic response.

The Scottish Medicines Consortium (SMC), which advises on newly licensed medicines for use by NHSScotland, has today (Monday, March 9) published advice on five medicines.

Published : March 09, 2026​. 

Omaveloxolone (Skyclarys®) was not recommended for the treatment of patients aged 16 years and older with Friedreich’s ataxia, a rare inherited condition that causes damage to the nervous system.

he committee was unable to accept omaveloxolone for the treatment of Friedreich’s ataxia. The company’s evidence around the cost effectiveness of the treatment was not sufficient.

Design Therapeutics Reports Fourth Quarter and Full Year 2025 Financial Results and Recent Business Updates

CARLSBAD, Calif., March 09, 2026 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today reported fourth quarter and full year 2025 financial results and highlighted business updates and upcoming milestones across its GeneTAC® portfolio. 

Friedreich Ataxia (FA): Design continues to dose FA patients in its RESTORE-FA Phase 1/2 MAD trial and anticipates providing an update on the effect of DT-216P2 on endogenous frataxin levels following 12 weeks of dosing in the second half of 2026.

Voyager Reports Fourth Quarter and Full Year 2025 Financial and Operating Results

March 09, 2026 16:01 ET | Source: Voyager Therapeutics, Inc.​. 

Neurocrine partnership update: Neurocrine has stated that, pending successful FDA IND clearance, it intends to initiate a clinical trial with NBIB-‘223 for Friedreich’s ataxia in H2 2026.

PLong-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., D. Lynch et al. Neuromuscular Disorders, Volume 53, 106043 doi:10.1016/j.nmd.2025.106043 

 Updated safety analyses will also be presented. 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.