Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study

Rummey C, Perlman S, Subramony SH, Corti M, Farmer J, Lynch DR. Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study. J Child Neurol. 2025 Jul 24:8830738251353475. doi: 10.1177/08830738251353475. Epub ahead of print. PMID: 40708339; PMCID: PMC12313166.

The FACHILD natural history study aimed to expand knowledge about the disease course and evaluate clinical outcome assessments in children. We report on functional performance testing, clinical rating scales, and patient-reported outcomes as clinical outcome assessments for Friedreich ataxia. Over a 3-year period, all tests and assessments were conducted to evaluate their sensitivity to progression and correlate with established measures such as neurologic rating scales. 

 Disease Progression in Children With Friedreich Ataxia: Functional Performance and Other Outcome Assessments in the FACHILD Study

Evaluation of Mitochondrial Complex 1 Density with [18F]BCPP-EF in a Murine Model and Individuals with Friedreich Ataxia

Evaluation of Mitochondrial Complex 1 Density with [18F]BCPP-EF in a Murine Model and Individuals with Friedreich Ataxia. Laigao Chen, Gaia Rizzo, Christine Bulawa, Koene R.A. Van Dijk, Erica C. Henning, Alain Martelli, Jeffrey Palmer, Avery McIntosh, Marko Pregel, Pengling Sun, Emmanuel Adewunmi, Mark Aldridge, Jackson Chan, Roger N. Gunn, Mickael Huiban, Allan Listanco, Peter T. Loudon, Sara Moz, Jan Passchier, Lauren Sauvage, Rachel Stewart, Lisa Wells, Eugenii A. Rabiner, Lawrence R. Charnas, Richard J. Festenstein, Journal of Nuclear Medicine Jul 2025, jnumed.124.268698; DOI: 10.2967/jnumed.124.268698 

 

Loss of frataxin impacts mitochondrial complex 1 (MC1) activity, suggesting MC1 may be a potential biomarker of frataxin levels and function. Biomarkers evaluated by noninvasive techniques are needed to monitor disease progression and treatment effects in people with Friedreich ataxia. MC1 density as measured using [18F]BCPP-EF–based PET may be a viable biomarker of mitochondrial deficit and frataxin levels in people with Friedreich ataxia.

SFDA Approves Registration Of Skyclarys For Treating Friedreich’s Ataxia In Adults And Adolescents

By OneArabia, Wednesday, July 23, 2025. The Saudi Food and Drug Authority (SFDA) has given the green light for Skyclarys (Omaveloxolone), a drug previously recognised as an orphan drug under their Orphan Drug Program. This medication is designed to treat Friedreich’s ataxia in individuals aged 16 and older.

CDA Issues Positive Reimbursement Recommendation for SKYCLARYS™ (omaveloxolone), the Only Health Canada-Approved Treatment for Managing Friedreich Ataxia

CNW Group Tue, July 29, 2025. TORONTO, July 29, 2025 /CNW/ - Biogen Canada Inc. is pleased to announce a significant step forward for Canadians living with Friedreich ataxia (FA), with the positive reimbursement recommendation by Canada's Drug Agency (CDA) Canadian Drug Expert Committee (CDEC) for SKYCLARYS™ (omaveloxolone) as a treatment for patients 16 years of age and older who meet certain criteria.1 This milestone brings Canadians outside Quebec affected by this rare neurodegenerative disease a step closer to accessing the only approved therapy for the condition.

Solid Biosciences’ SWOT analysis: gene therapy stock poised for growth amid challenges

Investing.com. Published 07/29/2025 

SGT-212 for Friedreich’s Ataxia: Recently received FDA Investigational New Drug (IND) clearance Unique dual-route administration approach targeting both neurologic and cardiac manifestations Phase 1b dose-finding study set to begin in the second half of 2025

RWD132 Onset of Cardiomyopathy and Cardiovascular Disease-Related Burden in Friedreich Ataxia: Real-World Data From Medical Claims

Sheng-Han Kuo, Boyang Bian, Sarah M. England, Daniel R.J. Gomes, Jim McKay, Tony Wang, Robin L. Avila, Susan Perlman, RWD132 Onset of Cardiomyopathy and Cardiovascular Disease-Related Burden in Friedreich Ataxia: Real-World Data From Medical Claims, Value in Health, Volume 28, Issue 6, Supplement 1, 2025, Page S386, ISSN 1098-3015, doi:10.1016/j.jval.2025.04.1715. 

These data show the natural progression of CV events in FA. Our findings demonstrate that patient burden related to progressive CM begins at an early age and that other cardiac disease, particularly arrhythmias and rhythm and heart valve disorders, may begin 2-11 years prior to CM, with CV onset as early as age 7 in the youngest patients. These data have limitations in older populations and those in Medicare but provide previously unavailable data on the onset of CM and CV disease in patients.

False Beliefs, True Deficits: Investigating Social Cognition in Friedreich Ataxia

Heleven E, Vyhnalek M, Karamazovová S, Van Overwalle F, Naeije G. False Beliefs, True Deficits: Investigating Social Cognition in Friedreich Ataxia. Cerebellum. 2025 Jul 11;24(5):128. doi: 10.1007/s12311-025-01886-z. PMID: 40643773. 

 Friedreich ataxia (FA) is a cerebellar neurodegenerative disease primarily known for its motor symptoms, but emerging evidence suggests it also affects higher-order cognitive functions, including Theory of Mind (ToM). This study aimed to assess ToM in individuals with FA using a Picture Sequencing Task (PST) that distinguishes between mechanical, social script, true belief, and false belief scenarios, with a focus on the latter as key marker of mentalizing in cerebellar diseases. 

Our results reveal a selective impairment in false belief reasoning in FA, consistent with ToM deficits observed in other cerebellar and neurodevelopmental disorders.

Unveiling the Idiographic Portrait of Friedreich's Ataxia in an Omani Patient: A Multidisciplinary Case Stud

Al-Adawi, Samir and Al Busaidi, Saoud Jaber and Al Jahwari, Nasra Ali and Rajeev, Neeraja and Alriyami, Maha and ALBusaidi, Alya and Al Kindi, Farah Ahmed and Otaify, Ghada Ahmed and Ambusaidi, Aamal and Al Azri, Faisal Hamad and Gujjar, Arunodaya R. and Bolourkesh, Helia, Unveiling the Idiographic Portrait of Friedreich's Ataxia in an Omani Patient: A Multidisciplinary Case Study. doi:10.2139/ssrn.5344239

Friedreich’s ataxia (FA), a rare inherited disorder that mainly affects Caucasian populations, presents significant diagnostic challenges in regions with diverse genetic backgrounds. This case report details the diagnostic journey of a 22-year-old Omani male with undiagnosed FA, highlighting the value of the idiographic approach within a biopsychosocial framework. Initially presenting with psychotic symptoms, the patient underwent a comprehensive interdisciplinary evaluation, revealing neurological and psychiatric manifestations.

Larimar Therapeutics Publishes Nonclinical Data Supporting the Therapeutic Potential of Nomlabofusp in Patients with Friedreich’s Ataxia

BALA CYNWYD, Pa., July 08, 2025 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Larimar) (Nasdaq: LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced the publication of two peer-reviewed articles highlighting nonclinical data on the therapeutic potential, pharmacology, and mechanism of action of nomlabofusp as a novel frataxin (FXN) protein replacement therapy designed to address the underlying cause of Friedreich’s ataxia (FA). These data were included in the briefing package reviewed by the U.S. Food and Drug Administration (FDA) in support of potentially using skin FXN concentrations as a reasonably likely surrogate endpoint (RLSE) for Larimar’s registrational program seeking accelerated approval for nomlabofusp.

LEXEO THERAPEUTICS ANNOUNCES FDA BREAKTHROUGH THERAPY DESIGNATION FOR LX2006 IN FRIEDREICH ATAXIA

NEW YORK, July 07, 2025 (GLOBE NEWSWIRE) -- Lexeo Therapeutics, Inc. (Nasdaq: LXEO), a clinical stage genetic medicine company dedicated to pioneering novel treatments for cardiovascular diseases, today announced that the U.S. Food and Drug administration (FDA) has granted Breakthrough Therapy designation to LX2006 based on clinical evidence generated on both cardiac and neurologic measures of Friedreich ataxia (FA). LX2006 has also been selected to participate in the FDA Chemistry, Manufacturing, and Controls (CMC) Development and Readiness Pilot (CDRP) program, intended to enable earlier patient access to therapies with expedited clinical development timelines.