22463 - MEJORÍA EN ESCALAS CLÍNICAS DE ATAXIA DE FRIEDREICH EN TRATAMIENTO CON OMAVELOXOLONA: A PROPÓSITO DE UN CASO

N. Rodríguez Albacete, A. Horga Hernández, A. Guerrero Sola, L. Galán Dávila,, 22463 - MEJORÍA EN ESCALAS CLÍNICAS DE ATAXIA DE FRIEDREICH EN TRATAMIENTO CON OMAVELOXOLONA: A PROPÓSITO DE UN CASO, Neurology Perspectives, Volume 5, Supplement 1, 2025, 111558, ISSN 2667-0496, doi:10.1016/S2667-0496(26)00777-5. 

En este caso, omaveloxolona se asoció a una mejoría clínica en escalas estandarizadas en una paciente con AF. Estos hallazgos contribuyen a incrementar la experiencia en práctica clínica real con este fármaco, aunque se requerirán mayor número de pacientes y seguimiento a largo plazo para confirmar estos resultados.

22211 - ANÁLISIS DE BIOMARCADORES PREDICTORES DE LA PROGRESIÓN EN LA ATAXIA DE FRIEDREICH (FRDA)

L. Manrique Arregui, F. Martínez Dubarbie, A. Pelayo Negro, N. Benítez Calle, M. Sánchez Peláez, D. Cota González, R. Martínez Díaz, I. Sánchez, A. Matilla, J. Infante Ceberio,, 22211 - ANÁLISIS DE BIOMARCADORES PREDICTORES DE LA PROGRESIÓN EN LA ATAXIA DE FRIEDREICH (FRDA), Neurology Perspectives, Volume 5, Supplement 1, 2025, 110789,ISSN 2667-0496, doi:10.1016/S2667-0496(26)00008-6.

Los pa4cientes con FDRA presentan mayores niveles de NfL en LCR y menor expresión de FXN. Aunque GAA1, DB y FXN se asociaron con la gravedad del fenotipo, GAA1 y SARA basal fueron los principales factores de progresión. Los NfL en LCR no se asociaron con la gravedad ni con la progresión clínica.

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.

An Open-Label, Single Dose Study to Assess the Breast Milk Pharmacokinetics of Omaveloxolone in Healthy Lactating Women

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026​. Poster Number: 316 T. An Open-Label, Single Dose Study to Assess the Breast Milk Pharmacokinetics of Omaveloxolone in Healthy Lactating Women. Hamim Zahir, PhD, Biogen, Inc., Lucy Wu, PhD, Biogen, Inc., Susie Sinks, Biogen, Inc., Andre Arizpe, PharmD, Biogen, Inc., Sarah Chambers Gurson, Biogen, Inc., Konstantine Skordos, Biogen, Inc.

Objective: To determine the relative estimated infant exposure of omaveloxolone through breast milk following a single dose of 150 mg in healthy lactating women.

Conclusions: The results indicate that after oral administration of a single dose of 150 mg omaveloxolone, breast milk–fed infants may be exposed to a small fraction.(<1%) of the adult dose. The safety findings observed in this study are consistent with the known safety profile for omaveloxolone.

Diagnoses and Procedures Observed Prior to Friedreich Ataxia Diagnosis: A Real-World US Medical Claims Analysis

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026. Poster Number: 291 T. Diagnoses and Procedures Observed Prior to Friedreich Ataxia Diagnosis: A Real-World US Medical Claims Analysis. Alicia Henriquez, MD, Seattle Children's Hospital, Meredith Hatcher, Texas Movement Disorder Specialists, Georgetown, TX, USA, Sarah Doss, University of Nebraska Medical Center, Omaha, NE, USA, Partha S. Ghosh, MD, Boston Children's Hospital, Pravin Khemani, MD, Swedish Neuroscience Institute, Seattle, WA, USA, Sarah M. England, PhD, Biogen, Inc., Queeny Ip, Komodo Health, Xinshuo Ma, Komodo Health, Saila Chen, Komodo Health, Robin Avila, PhD, Biogen, Alexandra DiDonato, PharmD, Biogen. 

Objective: To characterize diagnoses and procedures received by patients prior to diagnosis of FA. 

Conclusions: Medical claims data enhance our understanding of the clinical journey of patients leading to FA diagnosis. Prior to FA diagnosis, patients encounter various healthcare professionals, receive a variety of diagnoses, and experience a multitude of procedures, which may lead to delayed time to definitive FA diagnosis. Expediting the diagnostic pathway for FA through timely referrals enables earlier intervention, which is imperative for reducing disease burden and enhancing patient quality of life.

High prevalence of pathogenic expanded composite repeats in Friedreich ataxia: Need for a more accurate diagnostic testing strategy

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026​. Poster Number: 295 T. High prevalence of pathogenic expanded composite repeats in Friedreich ataxia: Need for a more accurate diagnostic testing strategy. Sanjay Bidichandani, MBBS, PhD, University of Oklahoma, Morgan Devore, MS, University of Oklahoma, Christina Lam, BS, University of Oklahoma, David Lynch, MD, PhD, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. High prevalence of pathogenic expanded composite repeats in Friedreich ataxia: Need for a more accurate diagnostic testing strategy. 

Objectives: To determine the true prevalence and variety of pathogenic composite alleles in FRDA by characterizing the precise sequence of the expanded alleles in a large prospective series of patients. To overcome the expense and unwieldy nature of whole genome longread sequencing by developing a robust, logistically-feasible, and cost-effective testing strategy to accurately detect and characterize these missing pathogenic alleles in FRDA.

US Medical Claims Database of Patients With Friedreich Ataxia Prescribed Omaveloxolone: Clinical Events From Diagnosis to Initiation of Treatment

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026. Poster Number: 296 T. US Medical Claims Database of Patients With Friedreich Ataxia Prescribed Omaveloxolone: Clinical Events From Diagnosis to Initiation of Treatment. Sheng-Han Kuo, PhD, Columbia University Medical Center, New York, NY, USA, Liana S. Rosenthal, MD, PhD, Johns Hopkins University School of Medicine, Boyang Bian, PhD, Biogen, Inc., Alexandra DiDonato, PharmD, Biogen, Sarah M. England, PhD, Biogen, Inc., Daniel Gomes, Voxanalytica, Nicholas D’Alberto, Biogen, Inc., James McKay, PhD, Biogen, Inc., Tony Wang, PhD, Voxanalytica, Robin Avila, PhD, Biogen. 

Objective: To describe clinical events and patient profiles in individuals with FA prior to omaveloxolone initiation using US medical claims.

Conclusions: These findings highlight that patients with FA experienced progressive worsening of symptoms, including bulbar, respiratory, and mobility impairments, between initial diagnosis and initiation of omaveloxolone. This underscores the importance of identifying decision points that should prompt earlier treatment intervention.

Long-Term Safety and Tolerability of Omaveloxolone in Patients With Friedreich Ataxia: Up to 6-Year Data From the MOXIe Open-Label Extension

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026​.Poster Number: 298 T. Long-Term Safety and Tolerability of Omaveloxolone in Patients With Friedreich Ataxia: Up to 6-Year Data From the MOXIe Open-Label Extension. Theresa Zesiewicz, MD, MD, University of South Florida Ataxia Research Center, Tampa, Florida, USA, Susan Perlman, MD, University of California, Los Angeles, Martin B. Delatycki, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, J. Chad Hoyle, Ohio State University College of Medicine, Sylvia Boesch, MD, Medical University of Innsbruck, Wolfgang Nachbauer, MD, PhD, Medical University of Innsbruck, Paola Giunti, MD, PhD, University College Hospital, George Wilmot, MD, PhD, Emory University School of Medicine, SH Subramony, MD, University of Florida Health, Katherine Mathews, MD, University of Iowa, Iowa City, Iowa, USA, Syed Farooq, Biogen International GmbH, Shobhana Natarajan, PhD, Biogen, Inc., Rose M. Domingo-Horne, MD, Biogen, Inc., Andre Arizpe, PharmD, Biogen, Inc., Jonathan Smith, MSc, Biogen Idec Ltd, Nicolas Folschweiller, Biogen, David Lynch, MD, PhD, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 

Objective: To evaluate the long-term safety and tolerability of omaveloxolone treatment in the MOXIe OLE.Conclusions: This updated analysis of the MOXIe OLE provides up to 6 years of continuous long-term safety and tolerability data regarding omaveloxolone use in patients with FA. 

Safety findings were consistent with the previously known safety profile.