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PTC Therapeutics has submitted an NDA to the FDA for vatiquinone, a potential treatment for Friedreich ataxia in children and adults. The submission is based on data from clinical studies showing significant and durable evidence of slowing disease progression and safety across all age groups. This marks the fourth approval application PTC has submitted to the FDA in 2025, following successful approval of their AADC gene therapy. [Extracted from the article]

A patent was issued for compositions and uses for the treatment of DNA repeat expansion diseases, such as Friedreich ataxia, by administering nuclease-resistant oligonucleotides that target genes involved in mismatch repair. The patent aims to slow the expansion rate of repeat expansion diseases and potentially delay or prevent symptoms. The invention focuses on inducing exon skipping in genes associated with these diseases, offering a potential therapeutic approach for over 100,000 individuals affected by repeat expansion diseases in the United States. [Extracted from the article]

A recent study conducted at the Miami Veterans Affairs Medical Center explored the relationship between photophobia and abnormal visual cortex activity in patients with Friedreich Ataxia (FDRA). The research involved a 64-year-old female with FDRA experiencing severe photophobia, who underwent functional magnetic resonance imaging (fMRI) to measure visual cortex activation during light stimuli. The study found a decoupled cortical neurovascular response to light in the FDRA patient, suggesting photophobia as a potential ocular manifestation of the disease. The findings may offer insights for future treatments and physiological understanding of FDRA. [Extracted from the article]

A clinical trial, NCT06692296, is being conducted to evaluate the effectiveness of an intensive rehabilitation intervention using the "Prokin 252" stabilometric platform in treating adolescent and adult patients with Friedreich's Ataxia (FRDA). Patients will be randomized into two treatment groups for 4 weeks, with assessments conducted before treatment, at the end of treatment, and via telemedicine 90 days after treatment. The study aims to explore the usefulness of the stabilometric platform in combination with conventional therapy for FRDA patients, focusing on improving balance and postural stability. The trial is being conducted in Italy and aims to assess the retention of treatment effects over time. [Extracted from the article]

Researchers at Tufts University have reported new findings on Friedreich Ataxia, a condition caused by expansions of GAA center dot TTC repeats in the human FXN gene. The study describes an experimental system to analyze large-scale repeat expansions in human cells, highlighting the role of DNA replication and the prevention of expansions by LNA-DNA oligonucleotides and PNA oligomers. This research provides insights into the mechanisms underlying repeat expansions in Friedreich Ataxia and offers potential strategies for prevention. The study was funded by various organizations, including the National Institute of General Medical Sciences and the Swedish Research Council. [Extracted from the article]

A recent report from Boston Children's Hospital discusses a case of a 15-year-old boy with progressive spastic paraplegia, initially suspected to have a form of congenital disorder of glycosylation. However, further genetic testing revealed biallelic pathogenic GAA repeat expansions in FXN, leading to a diagnosis of Friedreich's ataxia (FRDA). The study highlights the importance of considering FRDA in cases of complex hereditary spastic paraplegia and the utility of unbiased genome sequencing for diagnosing progressive motor disorders. [Extracted from the article]

Researchers from Swinburne University of Technology have conducted a study on gene therapy and its potential application in treating Friedreich Ataxia (FA), a neurodegenerative disease with systemic consequences. The study explores the practical and ethical issues surrounding precision medicine for rare diseases like FA, including management strategies, gene therapy trials, and ethical considerations such as equity of access and informed consent. The research emphasizes the importance of promoting equity, beneficence, and informed consent for novel gene therapies in the treatment of FA and other rare diseases. [Extracted from the article]

Capsida Biotherapeutics has introduced new preclinical data for CAP-004, a potential next-generation gene therapy for Friedreich's ataxia. This therapy targets the central nervous system, cardiac, and sensory manifestations of the disease while minimizing effects on off-target tissues. CAP-004 aims to address the key pathophysiological features of Friedreich's ataxia by increasing frataxin protein expression in the CNS, cardiac tissues, and sensory regions. The data will be presented at the International Congress for Ataxia Research in London. [Extracted from the article]

Researchers from BioSensics LLC conducted a study on Friedreich Ataxia (FRDA) to assess disease severity and monitor motor dysfunction using wearable sensors. The study involved 39 FRDA patients who were remotely monitored for 7 days, showing significant correlations between sensor-derived metrics and clinical/biological outcomes. Machine learning models incorporating sensor data improved the prediction of disease severity in FRDA. The research highlights the potential of wearable sensors in assessing FRDA and monitoring motor dysfunction. [Extracted from the article]

Researchers at the University of California have conducted a study on Friedreich's ataxia, an autosomal recessive disorder that affects mitochondrial function and can lead to cardiomyopathy. The study found significant sex differences in a mouse model of the disease, with males exhibiting a worse cardiac phenotype, lower survival rates, and deficiencies in kidney and reproductive organs. These differences were attributed to a decline in testosterone levels and alterations in protein expression related to cholesterol transfer and calcium signaling in the heart. The research sheds light on sexual dimorphism in Friedreich's ataxia and its impact on cardiac function. [Extracted from the article]

This document provides information about a newly launched clinical trial, NCT06623890, which aims to study the safety of a drug called BIIB141, also known as omaveloxolone or SKYCLARYS, in patients with Friedreich's Ataxia (FA). The trial is an observational study that collects health information about participants without changing their medical care. The main objective is to collect safety information, including serious adverse events (SAEs) and adverse events (AEs) related to heart failure or liver damage caused by the drug. The study will also investigate reasons for treatment interruption, discontinuation, or overdose. Participants will be screened and start treatment within 6 months, with regular visits to the study research center. The study is not yet recruiting and will enroll 300 participants. The contact information for the study is provided by Biogen. [Extracted from the article]

A recent study conducted by the Medical University of Innsbruck in Austria has shed light on the skeletal muscle involvement in Friedreich Ataxia (FRDA), an inherited neuromuscular disorder caused by a deficiency of the mitochondrial protein frataxin. The research found that frataxin deficiency leads to impaired mitochondrial function and adenosine triphosphate production, resulting in progressive balance and coordination disorders. In addition to neurological symptoms, FRDA also affects the striated muscles, particularly the heart, leading to hypertrophic cardiomyopathy and premature mortality. The study emphasizes the importance of investigating skeletal muscle in FRDA for the development of biomarkers and future therapeutic strategies. [Extracted from the article]

A recent study conducted by researchers at the University of Pennsylvania has explored the effects of nicotinamide adenine dinucleotide-positive (NAD(+)) precursors on a mouse model of Friedreich's Ataxia (FRDA). FRDA is a progressive disorder characterized by motor coordination loss and cardiac abnormalities due to insufficient expression of frataxin. The study found that administering NAD(+) precursors to mice with frataxin knockdown increased survival, improved cardiac hypertrophy, and limited increases in ejection fraction. While further investigation is needed, these findings suggest that NAD(+) precursors may have cardioprotective effects in FRDA. [Extracted from the article]

A recent study conducted at Children's Hospital Philadelphia provides new insights into Friedreich Ataxia (FRDA), a multi-system disorder caused by frataxin deficiency. The study focused on the association between skeletal muscle health and insulin sensitivity and secretion in adults with FRDA without diabetes mellitus (DM). The results showed that individuals with FRDA had lower insulin sensitivity and higher post-prandial insulin secretion compared to controls. Lower mitochondrial oxidative phosphorylation capacity, inactivity, and visceral adiposity were found to contribute to lower insulin sensitivity in FRDA. The researchers suggest that further studies are needed to determine if interventions targeting muscle or adipose tissue could delay FRDA-related DM. [Extracted from the article]

A recent study conducted at Children's Hospital Philadelphia has provided new findings on Friedreich Ataxia, a neurodegenerative disorder characterized by ataxia, dyscoordination, and cardiomyopathy. The study focused on serum cardiac biomarker levels in individuals with Friedreich Ataxia and their association with disease markers. The results showed that troponin I levels can serve as a marker of hypertrophy but only minimally predict later cardiac manifestations of the disease. The study suggests that younger age, female sex, and longer GAA repeat length may predict abnormal troponin I levels. [Extracted from the article]

The article reports on a pilot phase 2 trial evaluating etravirine, an anti-HIV drug, for its potential to treat Friedreich Ataxia (FRDA). Topics discussed include the drug's safety and tolerability, its effects on neurological function and exercise performance, and the changes in various health measures during the trial.

A new clinical trial, NCT06560346, has been launched to study the natural history and outcomes of children and young adults with Friedreich ataxia. The trial aims to understand the disease features and progression in order to inform future clinical trials. The study will collect data from participants with genetically confirmed Friedreich ataxia, as well as control participants, and will assess biomarkers and outcome measures. The trial is not yet recruiting and is expected to be completed by September 2028. [Extracted from the article]

A report from the Murdoch Children's Research Institute in Parkville, Australia discusses the current state of drug and gene therapies for Friedreich Ataxia (FRDA), a life-shortening condition. The review highlights the need for therapies that can delay, stop, or reverse the progression of FRDA. Current therapies focus on reducing oxidative stress, improving mitochondrial function, and gene replacement and editing. The approval of omaveloxolone, the first treatment for individuals with FRDA aged 16 and over, has generated excitement. The research emphasizes the importance of sensitive outcome measures and data from natural history studies in the approval process. [Extracted from the article]

Researchers at Florida International University have made progress in understanding the molecular mechanisms underlying somatic trinucleotide repeat (TNR) expansion and contraction in neurodegenerative diseases such as Friedreich's ataxia (FRDA). They found that DNA base excision repair (BER) actively modulates TNR instability, and the drug temozolomide (TMZ) induced large GAA repeat contraction in FRDA neural cells and mouse brain tissue. The researchers also discovered that TMZ inhibits H3K9 methyltransferases, leading to open chromatin and increased recruitment of the key BER enzyme, pol b, on the repeats. This study provides new insights into the potential development of gene therapy for repeat expansion diseases by targeting histone methylation and the BER pathway. [Extracted from the article]

Researchers at the University of Bari in Italy have reported new findings on the treatment of Friedreich's Ataxia (FRDA), a hereditary autosomal recessive disorder characterized by frataxin deficiency. The researchers developed solid lipid nanoparticles (SLNs) loaded with the drug diazoxide (DZX) using a microfluidic technique to improve its penetration of the blood-brain barrier (BBB) and reduce side effects. In vitro studies showed that SLN-DZX had enhanced permeability compared to plain DZX, and it also improved cell viability and reduced oxidative stress in FRDA fibroblast cells. The researchers concluded that SLN-DZX could be a potential therapeutic approach for FRDA with improved BBB penetration and reduced toxicity. [Extracted from the article]

A recent study analyzed iron homeostasis alterations in a mouse model of Friedreich Ataxia (FA), a cardio-neurodegenerative disease caused by mutations in the frataxin gene. The study found that frataxin deficiency affects iron homeostasis in a time-dependent and tissue-specific manner. Iron overload was observed in the brain of the mice, while iron signaling was altered in all tissues. The findings suggest that understanding the tissue-specificity of iron alterations is crucial for developing iron-related therapeutic interventions for FA. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]

A recent study conducted by Sanofi in Cambridge, Massachusetts focused on late-onset GM2 gangliosidoses, which includes late-onset Tay-Sachs and Sandhoff diseases. The study aimed to understand the natural progression of these neurogenetic disorders and identify clinical outcome assessments that could be used in future clinical trials. The research found that patients with late-onset GM2 gangliosidoses had a high disease burden and slow disease progression. However, the study also highlighted the challenge of finding responsive endpoints for clinical trials in rare, slowly progressive disorders. The findings support the development of more sensitive rating instruments or surrogate endpoints for future trials. [Extracted from the article]

This document provides information about a clinical study on the use of ASP2016, a gene therapy, for the treatment of heart problems in adults with Friedreich Ataxia. Friedreich Ataxia is a genetic condition that affects walking, sensation, and speech, and can also impact the heart. The study aims to assess the safety and tolerability of ASP2016 through a single infusion, along with the use of prednisolone tablets to prevent immune system interference. Participants will undergo various tests and procedures, including echocardiograms, biopsies, and exercise tests. The study is not yet recruiting and is expected to be completed by January 2031. [Extracted from the article]

This document provides information on an ongoing observational study focused on Spinocerebellar Ataxia Type 27B (SCA27B), a genetic disorder impacting the nervous system. The study's objective is to collect data on the disease's natural progression, including the presymptomatic stage, and to identify dependable outcome measures for future therapeutic trials. Participants will undergo annual assessments and have the option to contribute biosamples. The study, led by researchers from the University Hospital Tubingen in Germany and Spain, is currently recruiting 300 participants and is projected to conclude by December 2028. [Extracted from the article]

Researchers from the Federal University of the State of Rio de Janeiro (UNIRIO) have conducted an in silico analysis of genetic variants and structural modeling of the human frataxin protein in Friedreich's Ataxia (FRDA). FRDA is the most prevalent form of hereditary ataxias, characterized by progressive movement ataxia, loss of vibratory sensitivity, and skeletal deformities. The study identified 226 genetic variants of the frataxin gene, with predictive analyses revealing a prevalence of detrimental mutations that impact protein function. The research suggests potential disturbances in the interaction profile of certain protein domains, aligning with existing literature. [Extracted from the article]

The Critical Path Institute (C-Path) has partnered with the Friedreich's Ataxia Research Alliance (FARA) to integrate additional datasets on Friedreich's ataxia (FA) into C-Path's Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP). The integration includes data from two natural history studies, one focusing on pediatric patients with FA and another spanning over 20 years and involving 1,450 patients from multiple countries. The Friedreich's Ataxia Integrated Clinical Database (FA-ICD) will be discontinued to centralize and improve access to FA data in RDCA-DAP. This integration aims to enhance research efforts and improve patient outcomes for FA. [Extracted from the article]

A recent preprint abstract discusses the findings of a study on Friedreich's ataxia, a hereditary neurodegenerative disorder. The study focused on a mouse model of the disease and found that glial cell activation occurs before neurodegeneration in the cerebellar cortex. The mice displayed symptoms such as poor motor coordination, lower body weight, cerebellar atrophy, neuronal loss, and changes in synaptic proteins. The researchers suggest that this mouse model could be a valuable tool for studying the molecular mechanisms of Friedreich's ataxia and evaluating potential therapies. However, it is important to note that this preprint has not yet undergone peer review. [Extracted from the article]

This article discusses the role of ferroptosis, a form of cell death, in the dorsal root ganglia (DRG) of individuals with Friedreich ataxia (FA). FA is a rare neurodegenerative disease caused by low levels of the mitochondrial protein frataxin. The study found that frataxin deficiency in DRG neurons disrupts iron homeostasis and impairs the activation of NRF2, a key transcription factor involved in the antioxidant response pathway. This leads to increased oxidative stress and ultimately ferroptosis. The findings highlight the complex molecular pathways involved in FA and provide insights into potential therapeutic targets. [Extracted from the article]

A recent study investigated the response of skin fibroblasts from patients with Friedreich Ataxia (FRDA) to antioxidants. The researchers aimed to understand the differences in antioxidant response among cells with mutations in the frataxin gene responsible for FRDA. They found that individual cultures of FRDA fibroblasts showed inconsistent responses to antioxidant molecules, even under controlled conditions. This variability in response may contribute to the challenges faced in testing the effectiveness of antioxidants in counteracting the effects of frataxin depletion. However, it is important to note that this study has not yet undergone peer review. [Extracted from the article]

A recent report discusses research on Friedreich Ataxia, a rare genetic disorder that causes progressive coordination loss and other symptoms. The study, conducted by researchers from Children's Hospital Philadelphia, aimed to expand knowledge about the disease's natural history and clinical outcome assessments for pediatric patients. The study enrolled 108 individuals aged 7-18 years with a confirmed diagnosis of Friedreich Ataxia. The results confirmed the usefulness of the mFARS score in children but also highlighted issues with the upper limb subscore. The study suggests that the FARS E (Upright Stability) score may be a preferred outcome measure for this patient population. [Extracted from the article]

Researchers at Children's Hospital Philadelphia have conducted a study on individuals with Friedreich Ataxia (FRDA) to evaluate the feasibility, reliability, and natural history of adaptive cardiopulmonary exercise testing (CPET) performance in this population. The study found that traditional exercise is often difficult for individuals with FRDA, and there is limited evidence on how to measure exercise performance in this group. The researchers concluded that adaptive CPET is feasible in FRDA and can be a relevant clinical trial outcome for interventions that impact exercise performance. This study was funded by the NIH National Institute of Diabetes & Digestive & Kidney Diseases and the Friedreich's Ataxia Research Alliance. [Extracted from the article]

A study conducted by the University of Pennsylvania has examined the clinical features of Friedreich Ataxia (FRDA) patients who initially present with cardiac disease. The study found that a small percentage of FRDA patients first exhibit cardiac symptoms, ranging from asymptomatic features to heart failure. The research suggests that earlier identification of FRDA may be possible by increasing awareness of the condition among pediatric cardiologists. This information is important in the context of newly identified therapies for FRDA. [Extracted from the article]

Researchers at the University of Chicago have conducted a study on Friedreich's Ataxia (FRDA), a neurodegenerative disease that causes a progressive loss of standing balance. The study aimed to identify standing balance conditions and digital postural sway measures that can distinguish between individuals with FRDA and healthy controls. The researchers found that digital postural sway measures using wearable sensors were reliable and discriminative in assessing standing balance in individuals with FRDA. The study suggests that natural stance and feet together stance with eyes opened conditions could be used in clinical trials for FRDA. [Extracted from the article]

A recent study conducted by researchers from Fondazione IRCCS Istituto Neurologico Carlo Besta in Milan, Italy, examined the use of wearable sensors to measure physical activity in patients with Friedreich ataxia (FRDA). The study found that patients with FRDA had a reduced level of physical activity compared to healthy controls. The accelerometer-based measures were highly correlated with clinical scales and disease duration in FRDA. The researchers concluded that real-life activity monitoring using wearable sensors is feasible and can provide objective information about a patient's motor activities, supporting its usefulness as a complementary outcome measure in interventional trials. [Extracted from the article]

A report from the University of Florida discusses the perspectives of the Friedreich ataxia community on gene therapy clinical trials. The study collected opinions from individuals with Friedreich ataxia or parents/caregivers of patients. Participants expressed a sense of urgency in participating in gene therapy trials, with about half believing it would minimize symptoms and nearly one-fourth expecting a cure. The study also revealed that balance and walking issues were the symptoms that most interfered with participants' quality of life. The findings provide valuable information for future gene therapy studies and trial design. [Extracted from the article]

A patent application has been filed for a potential treatment for Friedreich's ataxia (FRDA), a rare genetic disorder that affects the nervous system. The treatment involves using a virus to deliver a gene called FXN, which produces a protein called frataxin, to specific cells in the body. The patent application also describes the use of a ligand, which inhibits the binding of certain proteins, in combination with the gene therapy. This treatment approach offers a potential alternative to current treatments, which only address the symptoms of FRDA. [Extracted from the article]

A recent study conducted by researchers from the University of California explores the potential of gene editing in treating Friedreich's ataxia (FRDA), a genetic disorder that affects multiple systems in the body. FRDA is caused by a mutation in the frataxin (FXN) gene, which leads to impaired mitochondrial function and iron homeostasis. The researchers used CRISPR/Cas9 gene editing to remove the mutation in patient-derived stem cells and observed improved mitochondrial function and reduced ER stress in the edited cells compared to FRDA cells. These findings suggest that gene editing could be a promising therapeutic intervention for FRDA. [Extracted from the article]

A new study on Friedreich's ataxia, a rare childhood neurologic disorder, has been conducted by researchers at the College of Health. The disease is caused by an abnormal expansion of the GAA repeat sequence in the FXN gene, leading to reduced expression of the frataxin protein. This results in progressive neurodegeneration, cardiomyopathy, diabetes, and musculoskeletal deformities. The study explores the use of antioxidants as a therapeutic modality for Friedreich's ataxia, summarizing the various antioxidants that have been investigated and signed off for clinical trials. The research also discusses the limitations of completed studies and proposes strategies for combinatorial antioxidant therapy in patients with Friedreich's ataxia. [Extracted from the article]

A recent study conducted at the Department of Bioengineering explores the use of artificial intelligence (AI) in the treatment of Friedreich's Ataxia (FA), a hereditary neurological disorder. The study focuses on the use of iron chelating medicines and histone deacetylase (HDAC) inhibitors as potential therapies for FA. The researchers used a quantitative structure-activity relationship (QSAR) search to identify compounds for further investigation. The study utilized the Random Forest (RF) technique and PubChem fingerprinting to generate models and interpret the results. The research concludes that AI can provide insights into the development of potential drugs for FA. [Extracted from the article]

A patent has been issued to Yale University for 2,4-dinitrophenol (DNP) formulations and methods for treating various diseases and disorders. Non-alcoholic fatty liver disease (NAFLD) is a key factor in the development of type 2 diabetes and other conditions, and new therapies are needed. DNP is a mitochondrial uncoupling agent that promotes heat dissipation and energy expenditure. The patent describes methods of administering DNP in sustained-release formulations to treat NAFLD, non-alcoholic steatohepatitis (NASH), hepatic steatosis, type 2 diabetes, obesity, and other related conditions. The patent also mentions the potential use of DNP in combination with other therapeutic agents. [Extracted from the article]

A recent study on Friedreich ataxia, conducted by researchers at the Veterans Affairs Medical Center, has provided new insights into the tissue damage caused by the condition. The study found that the heart, dentate nucleus, and dorsal root ganglia are particularly affected by Friedreich ataxia. The researchers observed iron-reactive granular inclusions in the myocardium, neuronal atrophy and grumose reaction in the dentate nucleus, and complex iron dysmetabolism in the dorsal root ganglia. These findings contribute to a better understanding of the pathology of Friedreich ataxia. [Extracted from the article]

A recent study conducted by researchers at the State University of New York (SUNY) Upstate Medical University in Syracuse focused on the management of Friedreich Ataxia-associated Cardiomyopathy in pregnancy. Friedreich Ataxia is a condition characterized by cardiomyopathy, which is caused by mitochondrial proliferation in myocytes. As more patients with Friedreich Ataxia are becoming pregnant, it is important for medical providers to understand how to care for this population. The study recommends the involvement of a cardio-obstetrics team throughout the entire pregnancy, with regular monitoring of cardiac function and the use of appropriate interventions if complications arise. The study also encourages breastfeeding for patients taking cardiac medications. [Extracted from the article]

A recent study conducted at Sahlgrenska University Hospital in Gothenburg, Sweden, aimed to investigate the prevalence of Friedreich Ataxia (FRDA) in the Vastra Gotaland Region (VGR) of Sweden. The researchers found that FRDA is less prevalent in their region than previously assumed. They also evaluated the use of plasma neurofilament light (p-NfL) as a potential biomarker for disease severity in FRDA. While they found that p-NfL may be increased in FRDA patients, particularly in younger and less clinically affected individuals, they concluded that its clinical value as a biomarker is uncertain. [Extracted from the article]

Researchers from the University of Padova have conducted a study on Friedreich ataxia (FRDA), a rare neurodegenerative disease caused by a genetic mutation. The study focused on the role of frataxin, a protein involved in mitochondrial function, in FRDA. The researchers found that frataxin interacts with respiratory complexes in the mitochondria and that a frataxin-like protein from another organism can improve mitochondrial function in FRDA cells. These findings suggest potential therapeutic targets for FRDA. [Extracted from the article]

Researchers from the Institut d'Investigacio Biomedica de Bellvitge (IDIBELL) have made new findings in the field of Friedreich ataxia, the most common inherited ataxia in Europe. The condition is primarily caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene, resulting in decreased frataxin protein levels. However, the researchers have identified a patient with a novel intragenic deletion within the FXN gene, highlighting the potential higher prevalence of such deletions and emphasizing the importance of parental sample testing for accurate genetic counseling. This research contributes to a better understanding of Friedreich ataxia and its genetic mechanisms. [Extracted from the article]

A recent study conducted in Treviso, Italy, examined the effectiveness of rehabilitation intervention in individuals with Friedreich ataxia (FRDA), a progressive neurological disorder. The study included 42 participants with FRDA, both adults and children, who underwent inpatient rehabilitation for 3-4 weeks. The results showed that the rehabilitation program significantly improved motor performance and ataxia symptoms in patients with FRDA. These findings suggest that rehabilitation interventions can provide meaningful clinical improvements for individuals with progressive neurological disorders like FRDA. [Extracted from the article]

A recent study conducted by researchers at the Medical University of Innsbruck in Austria has shed light on the pathophysiology of Friedreich's ataxia (FRDA), a severe multisystemic disorder caused by a deficiency of the mitochondrial protein frataxin. The researchers analyzed skeletal muscle biopsies from FRDA patients and controls using mass spectrometry-based proteomics analysis. They identified 228 differentially expressed proteins, with most being downregulated in FRDA. The findings suggest a derangement of mitochondrial architecture and maintenance pathways, as well as an adaptive metabolic shift of contractile proteins in FRDA. This research provides valuable insights for the development of future therapeutic strategies and highlights the importance of skeletal muscle-omics as a disease state readout in FRDA. [Extracted from the article]