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.