In vivo gene therapy: A strategy for mutations, degenerations, and tumors

Tao Wang, Mingyang Yu, Ping Liu, Zhiqiang Song, Cheng Li, Jianmin Yang, Na Liu, In vivo gene therapy: A strategy for mutations, degenerations, and tumors, Genes & Diseases, 2025, 101808, ISSN 2352-3042, doi:10.1016/j.gendis.2025.101808. 

 The current review summarizes the development of DNA nucleases and delivery vectors for in vivo gene therapy, emphasizing recent progress.

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia

Karamazovova, S., Laczó, M., Matuskova, V. et al. Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. Sci Rep 15, 31126 (2025). doi:10.1038/s41598-025-16302-z 

This study aimed to investigate perspective taking in patients with SCA and Friedreich ataxia (FRDA) using two tests. The Perspective-Taking/Spatial Orientation Test (PTSOT) was administered to 30 SCA patients, 30 FRDA patients, and 34 healthy controls (HC). In addition, SCA and HC completed the Directional-approach Task and a comprehensive neuropsychological assessment. SCA patients performed significantly worse than HC on both perspective taking tests. FRDA patients performed better than SCA and differed from HC only in a subset of PTSOT measures. Perspective taking performance in SCA was associated with global cognition and multiple cognitive domains but not with cerebellar motor impairment.

Alpha–lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia

Talaverón-Rey, M., Reche-López, D., Povea-Cabello, S. et al. Alpha–lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia. Orphanet J Rare Dis 20, 453 (2025).doi:10.1186/s13023-025-03990-z 

 Treatment with ALA was able to correct partially the pathological alterations in mutant fibroblasts. The optimal ALA concentration was dependent on the number of expanded GAA triplet repeats in the FXN gene. The positive effect of ALA was also confirmed in induced neurons derived from FRDA mutant fibroblasts. Our results also suggest that the positive effect of ALA was mediated by Peroxisome Proliferator-Activated Receptor Gamma activation. 

Conclusions: Our results suggest that ALA treatment can increase the expression levels of frataxin and reverse the mutant phenotype in cellular models of FRDA.

 

PTC Therapeutics Receives Complete Response Letter for Vatiquinone NDA

WARREN, N.J., Aug. 19, 2025 /PRNewswire/ -- PTC Therapeutics, Inc., announced today that the U.S. Food and Drug Administration (FDA) has issued a Complete Response Letter (CRL) related to the New Drug Application (NDA) for vatiquinone for the treatment of children and adults living with Friedreich's ataxia.

"We are of course disappointed by the FDA's decision to not approve vatiquinone," said Matthew B. Klein, M.D., Chief Executive Officer of PTC Therapeutics. "We believe the data collected to date demonstrate that vatiquinone could provide a safe and effective therapy for both children and adults living with Friedreich's ataxia. We plan to meet with the FDA to discuss potential steps to address the issues raised in the CRL.

" The FDA stated in the CRL that substantial evidence of efficacy was not demonstrated for vatiquinone and that an additional adequate and well-controlled study would be needed to support NDA resubmission.

Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary

Lynch, D. R., Goldsberry, A., Rummey, C., Farmer, J., Boesch, S., Delatycki, M. B., … Meyer, C. (2025). Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary. Future Neurology, 20(1). doi:10.1080/14796708.2025.2524313 

Friedreich ataxia (FA) is an inherited disorder that gets worse over time and affects movement, coordination, and speech. Omaveloxolone (Skyclarys®) capsules are a medicine that has been approved to treat FA in people aged 16 years and older. The approval is based on findings from the MOXIe clinical trial program. This program had 3 parts (Part 1, Part 2, and the MOXIe Open Label Extension). The MOXIe Part 2 study showed that omaveloxolone slowed the worsening of the disease in people with FA compared with those who received an inactive drug–or placebo–over 48 weeks (or 11 months). The study also showed that omaveloxolone causes side effects that were considered manageable, allowing most patients to continue using it.

Sensory nerve action potential reappearance after omaveloxolone treatment in patients with Friedreich ataxia

Sensory nerve action potential reappearance after omaveloxolone treatment in patients with Friedreich ataxia. Melita Rotar, Lea Leonardis; Clinical Neurophysiology Volume 178, October 2025, 2110974. doi:10.1016/j.clinph.2025.2110974 (Letter to the Editor).

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers

Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA. Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. Cerebellum. 2025 Aug 13;24(5):141. doi: 10.1007/s12311-025-01894-z. PMID: 40801974; PMCID: PMC12350468. 

Through a systematic MEDLINE search we identified 130 articles reporting oculomotor/vestibular recordings in patients with HCAs. A total of 2,018 subjects were included: 1,776 with genetically-confirmed and 242 with clinically-defined HCAs. Studied diseases included spinocerebellar ataxias (SCA) 1/2/3/6/7/27B, episodic ataxia type 2, Friedreich ataxia, RFC1-related ataxia, fragile X-associated tremor/ataxia syndrome, cerebrotendinous xanthomatosis, ataxia-telangiectasia, ataxia with oculomotor apraxia types 1&2, and Niemann-Pick disease type C.

FRIEDREICH ATAXIA- STEROIDOGENESIS (FRIEDSTERO)

ClinicalTrials.gov ID NCT07123142.

Sponsor Istanbul University

Information provided by Ozge Bayrak Demirel, Istanbul University (Responsible Party) Last Update Posted 2025-08-14 

Friedreich's ataxia (FA) is a rare autosomal recessive disorder caused by GAA repeat expansion in the FXN gene, leading to impaired iron-sulfur (Fe-S) cluster biosynthesis and mitochondrial dysfunction. Fe-S clusters are essential for the function of several enzymes involved in steroid hormone production. While animal and cell culture studies suggest impaired steroidogenesis in FA, no clinical study has systematically evaluated this in human patients. This pilot study aims to investigate adrenal and gonadal steroidogenesis pathways in FA patients using LC-MS/MS-based steroid profiling. A total of 11 genetically confirmed FA patients followed at Istanbul Faculty of Medicine will be enrolled. Clinical data and serum samples will be collected and compared with those of 15 age- and sex-matched healthy controls. The findings are expected to enhance understanding of endocrine alterations in FA and guide future therapeutic approaches.

Larimar Therapeutics Reports Second Quarter 2025 Financial Results

BALA CYNWYD, Pa., Aug. 14, 2025 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Larimar). Initial data from the 50 mg dose in the open label study and the adolescent PK run-in study planned for program update in September 2025 

Adolescent participants from the PK run-in study and patients with FA who have not participated in prior nomlabofusp clinical studies are currently screening and enrolling in the open label study; planning to enroll children (2 to 11 years of age) directly into the open label study

FDA recommended that the safety database include at least 30 participants with continuous study drug exposure for 6 months, and a subset of at least 10 participants for 1-year; large majority of safety data should be from participants receiving 50 mg nomlabofusp

Published two peer-reviewed articles; the nonclinical data included in the publications were part of the data submitted to FDA to support the mechanism of action of nomlabofusp and the potential use of skin FXN concentrations as a reasonably likely surrogate endpoint 

BLA seeking accelerated approval on track to be submitted in the second quarter of 2026 

Global Phase 3 study activities ongoing including qualification of identified sites with patient recruitment expected to initiate later this year.

Lexeo Therapeutics Reports Second Quarter 2025 Financial Results and Operational Highlights

NEW YORK, Aug. 14, 2025 (GLOBE NEWSWIRE) -- Lexeo Therapeutics, Inc.​. Breakthrough Therapy designation granted for LX2006 based on interim data from Phase I/II trials demonstrating clinically meaningful improvements in cardiac and neurologic measures of Friedreich ataxia 

LX2006 selected for FDA Chemistry, Manufacturing, and Controls Development and Readiness Pilot (CDRP) program, created to facilitate CMC registrational readiness and support faster patient access. Eight participants dosed in Phase I/II clinical trial (HEROIC-PKP2) of LX2020 for PKP2-ACM; interim clinical data update on track for second half of 2025

Solid Biosciences Inc. Reports Progress in Clinical Trials and Financial Highlights for Q2 2025

Quiver Quantitative. Aug. 12, 2025

SGT-212 for Friedreich’s Ataxia (FA) The Company expects to initiate a first-in-human, open-label, Phase 1b clinical trial of SGT-212 in the fourth quarter of 2025. The trial is expected to enroll non-ambulatory and ambulatory adult participants living with FA in up to three cohorts and is designed to evaluate the safety and tolerability of systemic and bilateral IDN administration of SGT-212. 

SGT-212 is the first investigational gene therapy for FA to utilize a dual route of administration and is intended to promote restoration of therapeutic levels of the frataxin protein to address the neurologic, cardiac and systemic clinical manifestations of FA.

Manejo anestésico de tempestade tireoidiana em paciente com ataxia de Friederich. Relato de caso

Giovanna Calixto Rossi Marques de Souza, Laura Faleiros de Lima, Paula Ariane Toneli Reis. Archives of Health, Curitiba, v.6, n.4, special edition, p.01-06, 2025. ISSN 2675-4711 DOI:10.46919/archv6n4espec-15350 

Este artigo apresenta o relato de um caso clínico de paciente com ataxia de Friedreich submetido a procedimento de emergência em meio a uma crise tireotóxica, e realiza uma revisão sistemática da literatura sobre as condutas anestésicas mais adequadas. Utilizando as bases de dados SciELO, LILACS e BVS, foram selecionados artigos brasileiros dos últimos 15 anos que abordam tempestade tireoidiana, ataxia de Friedreich e anestesia. O objetivo foi avaliar abordagens seguras e eficazes na anestesia para pacientes com essas condições associadas. A análise dos dados revelou que o uso de agentes anestésicos cardioestáveis, o controle rigoroso do estado hemodinâmico e metabólico, e a vigilância contínua no pós-operatório são imprescindíveis. 

 

Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review

Darriba Á, Munnich A, Cardoso-Leite P, Funalot B, Waszak F. Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review. Front Neurol. 2025 May 22;16:1558493. doi: 10.3389/fneur.2025.1558493. PMID: 40488204; PMCID: PMC12142069.

We argue for the inclusion of cognitive and speech-related assessments in clinical trials, and examine the potential of developments in cognitive neuroscience and technology to address current measurement challenges and support more accurate and comprehensive evaluation of treatment effects. These innovations have the potential to complement existing approaches, enhance trial design, and advance clinical care.

Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia

Conditions: Friedreich Ataxia Interventions: Drug: SKYCLARYS (omaveloxolone) Sponsors: Centre Hospitalier Universitaire de Nice 

Not yet recruiting 

Last Update Posted 2025-06-10 

This study aimed to comprehensively evaluate the effect of Omaveloxolone on dysphagia after six months of treatment, in a cohort of French patients with Friedreich's ataxia who benefited from early access to treatment between February 2024 and May 2025. The severity of dysphagia will be assessed using the Sydney Swallow Questionnaire (SSQ), completed by patients at baseline and after six months of Omaveloxolone treatment.

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Rummey C, Thomas-Black G, Garcia-Moreno H, Lynch DR, Abeti R, Arisoy H, Heslegrave A, Zetterberg H, Giunti P; European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology. Mov Disord. 2025 Jun 11. doi: 10.1002/mds.30250. Epub ahead of print. PMID: 40498047. 

NfL is a sensitive biomarker in early FRDA but decreases with age, converging with control values after 35-40 years. This age-dependent pattern must be considered when interpreting the effect of interventions in clinical trials. Especially in younger (age < 10 years) or presymptomatic patients and control subjects, additional longitudinal sampling is warranted. Elevated tau levels suggest involvement in underlying disease pathophysiology.

Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data

Liu H, Fan D, Tao H, Shen Z, Yao K. Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data. Cerebellum. 2025 Jun 18;24(4):119. doi: 10.1007/s12311-025-01873-4. PMID: 40533692. 

This study aims to evaluate post-marketing adverse events (AEs) associated with its clinical use by analyzing data from the FDA Adverse Event Reporting System (FAERS). We collected all adverse reaction reports associated with omaveloxolone from the first quarter of 2023 (Q1 2023) to the fourth quarter of 2024 (Q4 2024) in the FAERS database and performed signal detection using four distinct pharmacovigilance methods: the Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Empirical Bayesian Geometric Mean (EBGM).

Salutary Effects of Overexpression of Rsm22, an Assembly Factor for the Mitochondrial Ribosome, on Frataxin/Yfh1 Depletion Phenotypes in Saccharomyces cerevisiae

Pandey AK, Singh P, Pain J, Dancis A, Pain D. Salutary Effects of Overexpression of Rsm22, an Assembly Factor for the Mitochondrial Ribosome, on Frataxin/Yfh1 Depletion Phenotypes in Saccharomyces cerevisiae. Biomolecules. 2025 May 28;15(6):785. doi: 10.3390/biom15060785. PMID: 40563426; PMCID: PMC12191369. 

Here, we describe frataxin/Yfh1 bypass by overexpression of Rsm22, an assembly factor for the mitochondrial ribosome. Rsm22 overexpression in Yfh1-depleted yeast cells restored critical processes in mitochondria, including Fe-S cluster assembly, lipoic acid synthesis, iron homeostasis, and heme synthesis, to a significant extent. Formation of cytoplasmic Fe-S proteins was also restored, suggesting recovery of the mitochondrial ability to generate the (Fe-S)int intermediate that is exported from mitochondria and is utilized for cytoplasmic Fe-S cluster assembly. Importantly, an essential component of the mitochondrial iron-sulfur cluster machinery, namely ferredoxin, was virtually absent in mitochondria lacking Yfh1, but it was recovered with Rsm22 overexpression. Interestingly, ferredoxin overexpression could offset some of the effects of Yfh1 depletion. Ferredoxin has recently been shown to bind to the cysteine desulfurase protein Nfs1 at the same site as Yfh1, in a conserved arginine patch on Nfs1, such that ferredoxin binding at this site may confer frataxin-bypass activity.

Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy

Dakin A, Bogdanova-Mihaylova P, Walsh RA, Murphy SM, Ward D, Maher N, McCarthy CM. Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy. Int J Gynaecol Obstet. 2025 Jul 13. doi: 10.1002/ijgo.70361. Epub ahead of print. PMID: 40653762. 

Pregnancies complicated by chronic health conditions, such as FRDA, can pose clinical, logistical, and organizational challenges to optimize management and outcomes. We delineate the management challenges posed in the management of the largest Irish case series of pregnant patients with FRDA and extrapolate recommendations that can be applied to clinical practice through a literature review.

The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.

Conditions: Inclusion Body Myositis; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Facio-Scapulo-Humeral Dystrophy; Limb Girdle Muscular Dystrophies; Pompe Disease (Infantile-Onset); Myasthaenia Gravis; Lambert Eaton (LEMS); Spinal Muscular Atrophy (SMA); Guillain Barré Syndrome; Chronic Inflammatory Demyelinating Polyneuropathy; Friedreich Ataxia; Hereditary Motor and Sensory Neuropathies Interventions: Device: Assistive gait devices combined with physiotherapy Sponsors: LMU Klinikum 

Enrolling by invitation 

Last Update Posted 2025-07-18

The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb girdle and facioscapulohumeral muscular dystrophies, Pompe disease, Lambert-Eaton syndrome, myasthenia gravis, spinal muscular atrophy, Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy, Friedreich's ataxia and hereditary motor and sensory neuropathy

STRUCTURAL VALIDITY AND INTER-RATER RELIABILITY OF THE ATAXIA TRUNK, LOWER AND UPPER EXTREMITY SCALE (ATLAS) (ATLAS ReVA)

Conditions: Ataxia, Cerebellar; Ataxia, Gait; Ataxia, Motor; Ataxia; Ataxia, Spinocerebellar; Ataxias, Hereditary; Ataxia - Other Interventions: Other: New Scale to evaluate ataxia motor symptoms Sponsors: Haute Ecole de Santé Vaud 

Not yet recruiting 

Last Update Posted 2025-07-23

Ataxia is a neurological disorder affecting coordination, caused by damage to the cerebellum, brainstem, or related pathways. It can be hereditary (e.g., Friedreich's ataxia) or acquired (e.g., multiple sclerosis, stroke). Though rare, ataxia significantly impacts quality of life and independence. Treatments are limited and mainly focus on multidisciplinary rehabilitation. Accurate assessment is essential, yet current tools like Scale for the Assessment and Rating of Ataxia (SARA) have limitations. This study aims to validate a new scale, named the Ataxia Trunk, Lower And upper extremity Scale (ATLAS), through Rasch analysis, to develop a shorter, reliable version. It will assess internal consistency, construct validity, and inter-rater reliability

Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome. (CONNETTOMA)

Conditions: Friedreich's Ataxia; Motor Disorders Interventions: Device: HD-EEG recordings, combined with cognitive and motor assessment Sponsors: IRCCS Eugenio Medea 

Recruiting 

Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.

Design Therapeutics Highlights Progress Across Lead GeneTAC® Programs and Reports Second Quarter 2025 Financial Results

CARLSBAD, Calif., Aug. 07, 2025 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc.

Friedreich Ataxia (FA):

Today, Design announced early pharmacokinetics (PK) data for DT-216P2 demonstrating favorable translation from NHPs to humans with both intravenous (IV) and subcutaneous (SC) administration and an improved product profile compared to the prior DT-216 formulation (DT-216P1). 

Human plasma PK profiles of DT-216P2 were consistent with NHP data following both IV and SC single-dose administration. 

DT-216P2 exhibited improved exposure and PK parameters compared to DT-216P1, including higher AUC and sustained plasma levels at comparable doses. 

DT-216P2 has been generally well-tolerated, and based on clinical and non-clinical data, Design believes the injection site thrombophlebitis seen with DT-216P1 is no longer an issue limiting continued development of DT-216. 

In June, Design announced that it had received a clinical hold notice from the U.S. Food and Drug Administration (FDA) regarding its Investigational New Drug (IND) application for DT-216P2. FDA’s request pertains to the starting dose in the U.S., which the company plans to address with clinical data and, if needed, nonclinical data, in order to initiate studies for DT-216P2 in the U.S. Design continues to dose patients in its RESTORE-FA Phase 1/2 MAD trial of DT-216P2 outside the U.S. 

 

The Tiger Milk Medicinal Mushroom Lignosus rhinocerus (Agaricomycetes) Mitigates Oxidative Damage in a Cellular Model Mimicking Friedreich's Ataxia

Phang MWL, Hisam NSM, Supandi F, Cheng PG, Lim SH, Lim LW, Wong KH. The Tiger Milk Medicinal Mushroom Lignosus rhinocerus (Agaricomycetes) Mitigates Oxidative Damage in a Cellular Model Mimicking Friedreich's Ataxia. Int J Med Mushrooms. 2025;27(11):63-87.  doi: 10.1615/IntJMedMushrooms.2025059734. PMID: 40752029. 

The Tiger Milk Medicinal Mushroom Lignosus rhinocerus (Agaricomycetes) Mitigates Oxidative Damage in a Cellular Model Mimicking Friedreich's Ataxia. We evaluated the protective effects of L. rhinocerus ethanol fraction (LREF) in Friedreich's ataxia (FRDA) by using fibroblasts treated with L-buthionine sulfoximine (L-BSO) to induce oxidative damage to mimic the pathogenesis of the disease.

Muscle Endurance Training in a Person with Friedreich's Ataxia

McGarrell NT, Green ME, McCully KK. Muscle Endurance Training in a Person with Friedreich's Ataxia. Muscles. 2025 Jan 9;4(1):1. doi: 10.3390/muscles4010001. PMID: 40757576; PMCID: PMC12121318.

Friedreich's ataxia (FRDA) results from a faulty mitochondrial protein known as Frataxin. The purpose of this case report was to test whether skeletal muscle in FRDA can adapt to an endurance-based training program using neuromuscular electrical stimulation (NMES)Muscle adaptations to endurance training were seen in FRDA, but increased training might be needed to test if mitochondrial capacity can improve. 

Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis

Saha S, Jha A, Yadaw M, Tiwari B. Hypertrophic cardiomyopathy with ataxic gait: a cardiac clue to a neurologic diagnosis. BMJ Case Rep. 2025 Aug 4;18(8):e265662. doi: 10.1136/bcr-2025-265662. PMID: 40759502. 

 

In this case report, we describe a case of non-sarcomeric paediatric HCM associated with mitochondrial disorder (Friedreich's ataxia). Friedreich's ataxia is a neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the Frataxin gene. Symptoms include progressive ataxia, dysarthria, peripheral neuropathy and diabetes mellitus. Cardiovascular involvement, often presenting as HCM, emerges during adolescence and affects nearly two-thirds of patients. This case also highlights the importance of genetic analysis in paediatric cardiomyopathies. 

 

Fusion proteins attract funds and biopharma partnerships

August 6, 2025. Labiotech.eu. Fusion proteins have long been on the market to treat several diseases, including cancer, autoimmune, and rare conditions. These therapeutic agents have caught the attention of biopharma and investors alike these past months attracting dollars from deep pockets in the pursuit of commercial success. Nomlabofusp developer Larimar Therapeutics $69 million public offering.

Conditions of CDA’s recommendations

Canadian Journal of Health Technologies. July 2025 Volume 5 Issue 7. Reimbursement Recommendation: Omaveloxolone (Skyclarys).Indication: For the treatment of Friedreich’s ataxia in patients 16 years of age and older. 

Sponsor: Biogen Canada Inc. 

Final recommendation: Reimburse with conditions Canada’s Drug Agency (CDA-AMC) is a pan-Canadian health organization. Canada’s Drug Agency (CDA-AMC) recommends that Skyclarys be reimbursed by public drug plans for the treatment of Friedreich’s ataxia (FA) if certain conditions are met. 

Based on the sponsor’s submission, omaveloxolone-SOC is not cost-effective at a WTP of $50,000 per QALY gained when either the public health care payer or a societal perspective is adopted. Price reductions of 95% to 97% would be required for omaveloxolone-SOC to be cost-effective compared to SOC from the societal and public payer perspectives, respectively, at this threshold.

 

In vivo applications and toxicities of AAV-based gene therapies in rare diseases

Zhao, Q., Peng, H., Ma, Y. et al. In vivo applications and toxicities of AAV-based gene therapies in rare diseases. Orphanet J Rare Dis 20, 368 (2025). doi:10.1186/s13023-025-03893-z 

As of early 2024, only eight AAV-based gene therapy drugs have been approved.AAV-based gene therapies have revolutionized treatment for rare diseases; however, addressing toxicity and improving long-term efficacy remain key challenges.

 

First treatment option SKYCLARYS™ (omaveloxolone) for Australians diagnosed with ‘neurogenerative disease’ Friedreich ataxia1

Sydney, Australia – 21st July 2025 – Biogen Australia welcomes the TGA (Therapeutic Goods Administration) approval of SKYCLARYS™ (omaveloxolone) as the first treatment for adults and adolescents aged 16 years and older with the rare, genetic, progressive disease Friedreich ataxia (FA).

SKYCLARYS is not listed on the Pharmaceutical Benefits Scheme (PBS). 

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.