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.

Assessing Real-World Experiences on SKYCLARYS® (Omaveloxolone) (ARIES) in Patients With Friedreich Ataxia: An Observational Study

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026​. Poster Number: 292 T. Assessing Real-World Experiences on SKYCLARYS® (Omaveloxolone) (ARIES) in Patients With Friedreich Ataxia: An Observational Study. Elissa Hult, Biogen, Inc., Sarah M. England, PhD, Biogen, Inc., Boyang Bian, PhD, Biogen, Inc., James McKay, PhD, Biogen, Inc., Tami Sova, Biogen, Inc., Molly Scannell Bryan, PicnicHealth, Robin Avila, PhD, Biogen. 

Objective: To understand omaveloxolone treatment experience through PROs, the associated longitudinal clinical outcomes, and HCRU in the US real-world setting. 

Conclusions: This currently enrolling study will provide a means to longitudinally follow patients with FA treated with omaveloxolone in real-world clinical practice without the need for clinical sites. The findings will increase understanding of the real-world experience with omaveloxolone use in patients underrepresented in clinical trials and the impact on long-term patient experience and outcomes.

Interim Analysis of mFARS Trajectories Across 5 Years in the MOXIe Extension: Impact of Omaveloxolone Initiation Timing in Friedreich Ataxia

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026, Poster Number: 297 T. Interim Analysis of mFARS Trajectories Across 5 Years in the MOXIe Extension: Impact of Omaveloxolone Initiation Timing in Friedreich Ataxia. Theresa Zesiewicz, MD, MD, University of South Florida Ataxia Research Center, Tampa, Florida, USA, David Lynch, MD, PhD, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA, Claudia Yang Santos, PhD, Biogen, Inc., Susie Sinks, Biogen, Inc., Syed Farooq, Biogen International GmbH, Jonathan Smith, MSc, Biogen Idec Ltd, Shobhana Natarajan, PhD, Biogen, Inc., Nicolas Folschweiller, Biogen. 

Objective: Compare mFARS score trajectories between patients who initially received omaveloxolone in MOXIe Part 2 and patients who started omaveloxolone 1 year later in the OLE. 

Conclusions: The omaveloxolone-omaveloxolone group that started treatment 1 year before the placebo-omaveloxolone group showed numerically slower mFARS progression, relatively. Nevertheless, all patients receiving omaveloxolone experienced sustained benefit in slowing of mFARS decline throughout the analysis period.

Efficacy and Safety of a Novel Investigational AAV FXN Gene Therapy (SGT-212) for the Treatment of Friedreich’s Ataxia

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026​. Poster Number: 299 T. Efficacy and Safety of a Novel Investigational AAV FXN Gene Therapy (SGT-212) for the Treatment of Friedreich’s Ataxia. Matthew Harmelink, MD, Solid Biosciences, Brandon Chan, PhD, Solid Biosciences, Jun Lee, PhD, Solid Biosciences, Jessica Boehler, PhD, Solid Biosciences, Jamie Marshall, PhD, Solid Biosciences, Gourav Choudhury, PhD, DABT, Franklin Labs, Heather Born, PhD, GEMMA Biotherapeutics, Juliette Hordeaux, DVM, PhD, DECVP, GemmaBio, James Wilson, MD, PhD, GemmaBio, Jessie Hanrahan, PhD, Solid Biosciences, Gabriel Brooks, MD, Solid Biosciences, Nicholas Christoforou, PhD, Solid Biosciences. 

Approach: SGT-212, Solid Biosciences’ investigational AAV gene therapy for FA, expresses full-length, human FXN under a ubiquitous promoter. Preclinical evaluation of SGT-212 assessed neurologic and cardiac outcomes in conditional Fxn knockout mouse models targeting the nervous system (nKO) and heart (cKO). Long-term safety and biodistribution were assessed in non-human primates (NHPs) to support a first-in-human clinical trial using a dual route of administration via intraparenchymal dentate nucleus (IDN) and intravenous (IV) infusions. This multisystem, dual route approach was designed to target the neurologic, cardiac and systemic manifestations of FA.

Conclusions: These nonclinical studies demonstrate that a one-time administration of SGT-212 increases FXN expression in disease-relevant tissues, improves neurologic and cardiac phenotypes in mouse models, and is well tolerated in NHPs. Altogether, this positive, nonclinical data package supports the Phase 1b FALCON trial (NCT07180355), a first-in-human evaluation of SGT-212, which is actively screening participants.

Interim observations from a long-term open label study evaluating daily nomlabofusp administration in patients with Friedreich’s ataxia

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026. Poster Number: 419 O. Russell Clayton, DO, Larimar Therapeutics Inc., Erin Coyle, Larimar Therapeutics Inc., Flavia De Toni, PhD, Larimar Therapeutics Inc., Mohamed Hamdani, Larimar Therapeutics Inc. 

Objective: Evaluate interim observations related to FXN levels, clinical measures, and safety in patients with FA receiving long term administration of nomlabofusp. 

Conclusion: In patients with FA, daily administration of nomlabofusp for 6 months resulted in increased skin FXN to levels that were within the range expected in asymptomatic carriers with no phenotypic expression of disease. After 1 year of nomlabofusp treatment, values from clinical measures trended lower, suggesting a potential for clinical improvement in the context of increased FXN levels. There is a risk of anaphylaxis during early treatment, particularly in patients who had past exposure to nomlabofusp. Long term treatment with nomlabofusp appeared to be well tolerated.

Unmet Needs of Individuals With Friedreich Ataxia Cardiomyopathy: Insights From the Lexeo Friedreich Ataxia Cardiac Advisory Council

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026. Poster Number: 293 T. Cardiomyopathy: Insights From the Lexeo Friedreich Ataxia Cardiac Advisory Council. Joslyn Crowe, MSW, MA, Lexeo Therapeutics, Aly Bourbeau, Lexeo FA Cardiac Advisory Council, Marc Likins, Lexeo FA Cardiac Advisory Council, Amalia Maranhao, Lexeo FA Cardiac Advisory Council, Madelyn Raynsford, Lexeo FA Cardiac Advisory Council, Nilomi Shah, PharmD, Lexeo Therapeutics. 

 The FA Cardiac Advisory Council meeting aimed to understand crucial gaps and shared goals related to heart health, entry points in cardiac care and diagnostic challenges. A pre-meeting survey was completed by 10 council members. 

 Conclusions: The FA Cardiac Advisory Council identified key collaborative opportunities to increase knowledge around FA-CM and improve cardiac care by: sharing insights and stories on their lived experiences with FA-CM, developing materials to better inform newly diagnosed individuals with FA, building a community for those impacted by FA-CM via digital and social media channels, and providing on clinical trial experience.

Dexterity Outcomes in Friedreich Ataxia as Measured by mFARS and FA-ADL

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026. Poster Number: 294 T. Dexterity Outcomes in Friedreich Ataxia as Measured by mFARS and FA-ADL. Sheng-Han Kuo, PhD, Columbia University Medical Center, New York, NY, USA, Syed Farooq, Biogen International GmbH, Claudia Yang Santos, PhD, Biogen, Inc., Shobhana Natarajan, PhD, Biogen, Inc., Jonathan Smith, MSc, Biogen Idec Ltd, Richard Lawson, MSc, Biogen. 

Objective: To assess the impact of Friedreich ataxia (FA) on the activities of daily living associated with dexterity at different levels of disease severity.

Conclusions: Dexterity outcomes measured by FA-ADL have a strong association with mFARS score, suggesting that mFARS can also capture dexterity progression in FA.

Patient-reported experiences during long-term omaveloxolone treatment in Friedreich ataxia: survey design and planned qualitative analysis

MDA Clinic & Scientific Conference 2026. March 8 – 11, 2026. Patient-reported experiences during long-term omaveloxolone treatment in Friedreich ataxia: survey design and planned qualitative analysis. Susan Perlman, MD, University of California, Los Angeles, Theresa Zesiewicz, MD, MD, University of South Florida, Matthew Lafleur, MA, Bionews, Inc., Pensacola, FL, USA, Libby Schwers, BA, With Love, Libby, Des Moines, Iowa, USA, Jennifer Farmer, MS, Friedreich's Ataxia Research Alliance, Pearl WU, MS, Biogen, Claudia Yang Santos, PhD, Biogen, Inc., Kyle Fowler, MBiolSci, Syneos Health Consulting, Zurich, Switzerland, Fiona Thomas, MBChB, Syneos Health Consulting, London, UK, David Lynch, MD, PhD, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. 

This qualitative survey will explore patient-reported lived experiences and perceptions of functional outcomes among adults (≥18 years) with Friedreich Ataxia (FA) receiving long-term omaveloxolone treatment in the United States.

Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain

Calmaestra-Carrillo, E., Vernet, R., Torrent-Farnell, J. et al. Health care, social, educational, and employment needs of individuals affected by rare diseases and their families in Catalonia, Spain. Orphanet J Rare Dis (2026). doi:10.1186/s13023-026-04281-x 

This study aims to describe the perceived needs of individuals affected by rare diseases and their families, regarding healthcare, social, educational, and employment systems.

FDA reversals leave investors worrying about the fates of other experimental drugs

Published Fri, Mar 6 2026. The FDA in the past year has denied or discouraged applications of at least eight new drugs, according to RTW Investments. 

The agency initially refused to review Moderna’s flu shot before reversing course. Companies have accused the FDA of reversing previous guidance, leaving investors worried about the prospects for other drugs in the pipeline. 

FDA Commissioner Marty Makary and other leaders have publicly pledged flexibility for drugs treating rare diseases. Investors don’t feel like recent moves reflect that.

Larimar Therapeutics Announces FDA Breakthrough Therapy Designation for Nomlabofusp in FA and Reiterates Planned BLA Submission in June 2026

BALA CYNWYD, Pa., Feb. 24, 2026 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Larimar) (Nasdaq: LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to nomlabofusp, a frataxin (FXN) protein replacement therapy with disease modifying potential, for the treatment of adults and children with Friedreich’s ataxia (FA).

Solid Biosciences Highlights FDA Path for SGT-003 DMD Study, Shares Early Friedreich’s Ataxia Update

Defense World Staff on Feb 17th, 2026

Friedreich’s ataxia: dual route administration and first patient dosed Turning to FA, Cumbo said the program uses a dual route of administration designed to reach the dentate nucleus of the cerebellum while also targeting the spinal column and heart. He described MRI-guided stereotactic delivery into both sides of the dentate nucleus, led by neurosurgeon Dr. Lonser at Ohio State University, followed by intravenous dosing after a rest period. 

Cumbo said Solid dosed its first FA patient, a 27-year-old who was “very, very sick,” and referenced an mFARS score of 93 (noting the patient had been in the high 80s). Roughly 40 days after dosing, he said the patient experienced a headache that resolved with Tylenol and that the company had not seen other issues. He added that the team was “already hearing things” suggestive of efficacy, but emphasized it did not yet have proof. 

For planned data disclosure, Cumbo said Solid expects to dose three to six FA patients over the course of the year and anticipates reading out results from the first three patients in the second half of the year, while continuing dosing in a second cohort. On expectations for clinical benefit, he cited 2.14 as the mFARS bar associated with the regulatory approval of SKYCLARYS.

Targeting frataxin deficiency in DRG neurons and fibroblasts: omaveloxolone restores metabolic and iron balance to reduce ferroptosis

Portillo-Carrasquer M, Sanz-Alcázar A, Sánchez-López B, Delaspre F, Pazos-Gil M, Oliveira-Jorge L, Castells-Roca L, Tamarit J, Ros J, Cabiscol E. Targeting frataxin deficiency in DRG neurons and fibroblasts: omaveloxolone restores metabolic and iron balance to reduce ferroptosis. Biomed Pharmacother. 2026 Feb;195:119031. doi: 10.1016/j.biopha.2026.119031. Epub 2026 Jan 23. PMID: 41579709.

Here we used frataxin-deficient DRG neurons to better understand the drug's role in these sensory neurons. Omaveloxolone improved most of the analyzed parameters, including frataxin levels, cell survival, mitochondrial respiratory activity, iron homeostasis, oxidative stress, transferrin receptor 1 and glutathione peroxidase 4 levels, as well as the GSH/GSSG ratio.

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale

Rummey C, Farmer JM, Lynch DR. Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale. Ann Clin Transl Neurol. 2026 Feb;13(2):393-398. doi: 10.1002/acn3.70239. Epub 2025 Nov 26. PMID: 41293985; PMCID: PMC12883693. 

The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective subscores of the modified Friedreich Ataxia Rating Scale (mFARS). The effect increased with the number of consecutive tests, shorter testing intervals, and older group ages. This has implications for trial design and endpoint selection, thus strengthening the utility of the Upright Stability Score (USS), a sub‐score of mFARS, as an independent measure.

Syndromic and Metabolic Cardiomyopathies: Rare Variants for Adults (Glycogen Storage Diseases, Friedreich’s Ataxia)

Turk Kardiyol Dern Ars 2024;52(Suppl 1):S1-S206. In Friedreich’s Ataxia patients, concentric left ventricular hypertrophy is common; asymmetric hypertrophy is very rare. Diastolic wall thickness is usually less than 15 mm, the ejection fraction is preserved, and outflow tract obstruction is typically absent.

Clinical manifestations of Friedreich ataxia in patient with neurofibromatosis seen at Daoud Charity Clinic Sudan: A case report

Abbasher Hussein, Mohajer Ismael, Mohamed Baraka, Abdaleliah Abobker, Wadah Altoom, Osama Suliman, Clinical manifestations of Friedreich ataxia in patient with neurofibromatosis seen at Daoud Charity Clinic Sudan: A case report, Journal of the Neurological Sciences, Volume 480, Supplement, 2025, 125530, ISSN 0022-510X, doi:10.1016/j.jns.2025.125530. 

 The case of Fredrich's ataxia and neurofibromatosis had been reported. Despite this, there was no clear association or overlapping relationship between the two diseases.

Mitochondrial iron overload is associated with lysosomal dysfunction-mediated mitophagy impairment in the heart of Friedreich’s ataxia

Eunbin Jee, Maisha Medha, Hwayoung Baek, Jonghan Kim, Yuho Kim, Mitochondrial iron overload is associated with lysosomal dysfunction-mediated mitophagy impairment in the heart of Friedreich’s ataxia, Mitochondrion, 2026, 102120, ISSN 1567-7249, doi:10.1016/j.mito.2026.102120. 

Collectively, our study provides mechanistic insight into the role of mitochondrial iron aggregates in the pathogenesis of FRDA-related cardiomyopathy and suggests a potential contribution of lysosomal dysfunction to impaired mitochondrial quality control in the context of cardiac frataxin deficiency.

La omaveloxolona recibe luz verde en España como primer tratamiento específico para la Ataxia de Friedreich

Comisión Interministerial de Precios de los Medicamentos 28 de enero de 2026. Skyclarys H* (omaveloxolona): Tratamiento de la ataxia de Friedreich en adultos y adolescentes a partir de los 16 años de edad.

Larimar’s Pediatric Friedreich’s Ataxia Trial Termination: What Investors Should Know

TipRanks Clinical-Trials-Jan 28, 2026 

"The study was first submitted in November 2024, signaling the formal start of the regulatory process for this pediatric program. The most recent update to the record was filed on January 26, 2026, showing that key information on the trial has been reviewed and refreshed. Notably, the trial status is listed as “terminated,” indicating that the study was stopped early and will not reach a planned primary or final completion date; reasons for termination are not detailed in the registry entry."

California grants $7.4 million to advance gene-edited stem cell therapy for Friedreich’ s ataxia

Gen 13, 2026. The California Institute for Regenerative Medicine (CIRM) has awarded $7.4 million to support a University of California San Diego team developing a first-of-its-kind stem cell-based gene therapy for Friedreich’s ataxia, a rare inherited neurodegenerative disease that causes progressive loss of coordination, muscle strength, heart function and overall mobility. The new funding will help the research team complete the final steps required by federal regulators before they can apply to begin a first-in-human clinical trial.

Orphan Drug Designation for SGT-212 Dual-Route Gene Therapy for the Treatment of Friedreich’s Ataxia

CHARLESTOWN, Mass., Jan. 12, 2026 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. today announced that U.S. Food and Drug Administration (FDA) has granted Orphan Drug designation to SGT-212 for the treatment of Friedreich’s ataxia (FA). Additionally, earlier today, the Company reported that the first participant has been dosed in FALCON, a Phase 1b, first-in-human clinical trial evaluating SGT-212 for the treatment of FA.

Participant in First-in-Class Phase 1b FALCON Trial Evaluating SGT-212 Dual-Route Gene Therapy for the Treatment of Friedreich’s Ataxia

CHARLESTOWN, Mass., Jan. 12, 2026 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. today announced that the first participant has been dosed in FALCON, the Company’s Phase 1b, first-in-human clinical trial evaluating SGT-212, its investigational gene therapy for the treatment of Friedreich’s ataxia (FA).

FALCON is a first-in-human, open-label, multi-center Phase 1b clinical trial designed to evaluate the safety and tolerability of SGT-212 in participants aged 18-40 who have been diagnosed with FA and cardiac hypertrophy. FALCON is being conducted in the United States.

SGT-212 is a recombinant AAV-based gene replacement therapy for Friedreich’s ataxia (FA) designed to deliver full-length human frataxin (FXN) via a dual route of administration: intradentate nucleus (IDN) infusion, using an FDA-approved neurosurgical device in a stereotactic, precision MRI-guided technique, followed by an intravenous (IV) infusion, with the intent to increase therapeutic FXN levels in the cerebellar dentate nuclei, cardiomyocytes and other systemic tissues. Targeted delivery to the dentate nuclei will be confirmed in real time via MRI. Restoration of FXN levels is expected to repair the underlying mitochondrial dysfunction in neurons and cardiomyocytes to address neurologic, cardiac and systemic manifestations of the disease.

Biogen Advances New SKYCLARYS Formulation in Early Trial, Supporting Long-Term Rare Disease Strategy

TipRanks Clinical-Trials-Auto-Generated Newsdesk, Jan 09, 2026.

Study Overview This Phase 1 Biogen study, officially titled “A Phase 1, Randomized, Open-Label, Single-Dose, Crossover, Bioequivalence Study of Omaveloxolone Tablets for Oral Suspension Versus Capsules in Healthy Adult Participants,” aims to see whether a new tablet-for-suspension form of BIIB141 (omaveloxolone/SKYCLARYS) behaves in the body the same way as the current capsule. The focus is on how the drug is absorbed and processed in healthy adults, and on basic safety signals. The work matters because an easier-to-take form could broaden use in Friedreich’s ataxia and support longer-term revenue durability for Biogen. Study Design This is an interventional, Phase 1, randomized, open-label, two-period crossover study in healthy volunteers. All participants receive both forms of the drug in different orders, with a washout period between doses. There is no placebo and no blinding. The main purpose is treatment-focused bioequivalence: to compare how much drug gets into the bloodstream and how fast, and to confirm that both forms perform similarly while monitoring basic safety and tolerability.

Insights into DNA repeat expansions among 900,000 biobank participants

Hujoel, M.L.A., Handsaker, R.E., Tang, D. et al. Insights into DNA repeat expansions among 900,000 biobank participants. Nature (2026). doi:10.1038/s41586-025-09886-z 

 Expansions and contractions of tandem DNA repeats generate genetic variation in human populations and in human tissues. Some expanded repeats cause inherited disorders and some are also somatically unstable. Here we analysed DNA sequencing data from over 900,000 participants in the UK Biobank and the All of Us Research Program using computational approaches to recognize, measure and learn from DNA-repeat instability.

Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis

Pazos-Gil, M., Medina-Carbonero, M., Sanz-Alcázar, A., Portillo-Carrasquer,M., Oliveira-Jorge, L., Hernández, G., Sánchez, M., Delaspre, F., Cabiscol, E., Ros, J., Tamarit, J.,Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis, iScience(2026), doi: doi:10.1016/j.isci.2025.11462 

Our results reveal tissue-specific alterations of Iron Regulatory Proteins. In the heart, IRP2 accumulation is observed, likely triggered by iron-sulfur deficiency, while IRP1 is decreased in the cerebellum and liver. We also found elevated iron levels in mutant mice. Accumulation was particularly pronounced in the cerebellum, where increases were already evident at 10 weeks. Hepatic accumulation was not manifested until 21 weeks and was more pronounced in females. Overall, these findings indicate that frataxin deficiency disrupts iron homeostasis in a tissue-, age-, and sex- dependent manner, and provide novel insights into the mechanisms causing these perturbations.

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia

Pernaci C, Johnson A, Gillette S, Warden AS, McCormick C, Weiser-Novak S, Ramirez G, Broersma EH, Mishra P, Sivakumar A, Cherqui S, Coufal NG. Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia. Nat Commun. 2025 Nov 29;17(1):81. doi: 10.1038/s41467-025-66710-y. PMID: 41318543; PMCID: PMC12770375. 

 In a murine xenograft model, transplanted human FRDA microglia accumulate in white matter and the Purkinje cell layer, resulting in Purkinje neuron loss in otherwise healthy brains. Notably, CRISPR/Cas9-mediated correction of the GAA repeat reverses microglial defects and mitigates neurodegeneration. Here, we suggest that microglial dysfunction serve as a disease driver and a promising therapeutic target in FRDA.

Nanobodies as tools for studying human frataxin biology

Pignataro, M.F., Fernández, N.B., Garay-Alvarez, A. et al. Nanobodies as tools for studying human frataxin biology. Commun Biol (2026). doi:10.1038/s42003-025-09458-x 

As a whole, our results suggest that nanobodies can serve as binding partners for mitochondrial FXN. However, the specific effect of the nanobodies on the conformational stability of FRDA-related FXN variants in cells should be investigated.

Ataxia with hypertonia and absent deep tendon reflexes (DTRs)

Maddela, Chakradhar. (2026). Ataxia with hypertonia and absent deep tendon reflexes (DTRs) -DD. 10.13140/RG.2.2.12440.66562. 

It is an important localization clue-suggesting central cerebellar involvement with concomitant peripheral neuropathy or dorsal root involvement. Pathophysiologic Pattern • Ataxia → Cerebellar dysfunction • Hypertonia → Central (UMN / extrapyramidal) involvement • Absent DTRs → Peripheral neuropathy / dorsal root ganglion involvement Combined central + peripheral nervous system disease Common & Important Causes 1. Friedreich Ataxia (MOST COMMON) • Onset: 5-15 years • Progressive gait and limb ataxia • Absent DTRs (early) • Extensor plantar, increasing tone later • Sensory loss (proprioception, vibration) • Associated: cardiomyopathy, scoliosis, diabetes • Mechanism: Spinocerebellar + posterior column + peripheral nerve degeneration 2. Ataxia-Telangiectasia (Late Stage) • Early hypotonia → later rigidity / hypertonia • Peripheral neuropathy → absent reflexes • Oculocutaneous telangiectasia • Recurrent sinopulmonary infections • Raised AFP

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

Grobe-Einsler M, Borel S, Buchholz M, Sayah S, Hilab R, Pierron L, Iskandar A, Humphries B, Ewenczyk C, Heinzmann A, Atencio M, Feldmann K, Maas V, Faber J, Boesch S, Indelicato E, Reetz K, Schulz JB, Bischoff AT, Klopstock T, Schöls L, Minnerop M, Timmann D, Davies EH, Klockgether T, Durr A, Xie F, Michalowsky B. Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study. Lancet Reg Health Eur. 2025 Dec 11;61:101552. doi: 10.1016/j.lanepe.2025.101552. PMID: 41488489; PMCID: PMC12756708. 

One hundred one patients (mean [SD]: age 35.0 [11.5]; GAA-repeat size 657 [299]; 50.5% women) were included. Activities of daily living, HRQoL, communication disabilities, and informal care utilization worsened significantly across disability stages with moderate to high effect sizes. Cognitive-affective impairments and mental well-being showed significant associations with small effect sizes. Twenty-three patients (33.3%) received formal care, while 40 (58.0%) received informal care (mean 12.2 h/week). Omaveloxolone was used by 33 patients (32.7%). Annual healthcare costs excluding Omaveloxolone were €13,620 (payer) and €32,679 (societal perspective, including informal care and productivity losses).