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.