Steve Bryson, PhD,  science writer—

The U.S. Food and Drug Administration (FDA) granted priority review to PTC Therapeutics‘ application seeking the approval of vatiquinone, an oral treatment for children and adults with Friedreich’s ataxia (FA). The agency will announce a decision by Aug. 19, the company said. “We are excited to be…

Skyclarys (omaveloxolone) improves heart function in Friedreich’s ataxia (FA) by reducing abnormal heartbeats and stabilizing heart rhythm, a study in a mouse disease model of severe cardiomyopathy concluded. Data also revealed sex-specific disturbance in the heart’s electrical activity and responses to Skyclarys treatment in these mice. The study,…

Throughout 2024, Friedreich’s Ataxia News brought readers detailed coverage of the latest clinical research related to Friedreich’s ataxia (FA), as well as updates on scientific breakthroughs and developments in treatment. Here are the top 10 most-read stories of last year, each with a brief description. We’re excited to continue…

Cardiomyopathy in people with Friedreich’s ataxia (FA) significantly associated with a shortening of chromosomal telomeres —  the “tips” of chromosomes — in immune cells, a study reported. Telomere length is known to decrease with age, and younger FA patients, up to around the mid-30s, had longer telomeres than…

Reduced muscle heath, physical inactivity, and more belly fat lowered sensitivity to insulin, a risk factor for diabetes, among adults with Friedreich’s ataxia (FA) who didn’t have diabetes, a small study finds. Further studies are needed to determine if muscle- or fat-focused interventions could delay FA-related diabetes, the…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to PPL-001, Papillon Therapeutics‘ cell therapy for Friedreich’s ataxia (FA). According to Papillon, PPL-001 uses a “unique multi-systemic approach to treat patients” with FA. The cell-based therapy “offers the potential to modify and reverse disease progression,”…

Widespread scar tissue in the lower left chamber of the heart — the left ventricle —  correlated with genetic disease severity in people with Friedreich’s ataxia (FA), an imaging study found. Genetic disease severity refers to the amount of the frataxin protein derived from the least affected of a…

Larimar Therapeutics plans to launch a study by the end of the year that will test the pharmacological properties of its investigational therapy nomlabofusp, formerly CTI-1601, in children and adolescents, ages 2 to 17, with Friedreich’s ataxia (FA). It will begin with the enrollment of 12-15 adolescent…

The U.S. Food and Drug Administration (FDA) has selected nomlabofusp, an investigational treatment for Friedreich’s ataxia (FA), to participate in the Support for Clinical Trials Advancing Rare Disease Therapeutics (START) pilot program. Launched by the FDA in September 2023, the milestone-driven program seeks to accelerate the development of…

Voyager Therapeutics has selected a lead gene therapy candidate to advance into clinical trials with the aim of correcting the genetic defect that causes Friedreich’s ataxia (FA). With this decision, which was made with Neurocrine Biosciences, the companies expect to begin clinical trials in 2025. “The nomination…

Gene therapy safely reversed heart problems, lowered blood markers for heart muscle damage, and extended survival in a mouse model of severe Friedreich’s ataxia (FA), a new study shows. The findings further support the development of gene therapy for FA patients with severe heart…

A deficiency in the frataxin protein, which is the underlying cause of Friedreich’s ataxia (FA), alters a process in a large protein structure in mitochondria critical for energy production, a cell-based study suggests. Specifically, this deficiency affects the formation of iron-sulfur clusters — which are specialized molecules needed for…

Noninvasive diffusion MRI (dMRI) captured changes in the structure of the brain and brainstem of people with Friedreich’s ataxia (FA), a study reports. dMRI, a new method that relies on the flow of water in tissue to assess neurodegeneration, has the potential to identify therapeutic targets in FA patients,…

Supplementation with butyrate, a short-chain fatty acid produced in the gut by good bacteria, reversed many diabetes-like metabolic defects found in fat tissue from a mouse model of Friedreich’s ataxia, a study reported. In addition to its effects on metabolism, butyrate lowered signs of ongoing inflammation observed in FA…

Worse ataxia at an initial assessment predicted poor outcomes after four years in people with Friedreich’s ataxia (FA), according to a natural history study. The speed of disease progression was different, fastest in those in the earliest disease stages and gradually slowing as it advanced. Being younger at the…

Researchers have developed a new mouse model of Friedreich’s ataxia (FA) that captures coordination and muscle strength impairment seen in patients, a study reports. The model was created by worsening symptoms of a standard mouse model by further suppressing production of the frataxin protein, which is deficient in FA…

MRI scans detect large- and small-scale changes in various areas of the brain and brainstem in the early stages of Friedreich’s ataxia (FA) over time, a new study reports. Many of the changes occurred outside the cerebellum, a brain region primarily implicated in the motor problems associated with…

Continuous exposure to low levels of oxygen, or hypoxia, prevented or rapidly reversed motor symptoms in a mouse model of Friedreich’s ataxia, a study suggested. While a continuous mild hypoxia regimen also slowed the onset of motor symptoms, it didn’t reverse motor impairment. Intermittent hypoxia had a detrimental effect…

After nearly 1.5 years of treatment, vatiquinone (PTC-743) was found to slow disease progression by 75% in children and adults with Friedreich’s ataxia (FA), according to top-line MOVE-FA trial data. In key secondary measures, PTC Therapeutics‘ oral therapy candidate for FA also demonstrated significant benefits among patients…

Altered connections between the cerebellum, a brain region important for coordinating voluntary movements, and the cerebral cortex, involved in higher-level processes, are associated with greater severity of Friedreich’s ataxia (FA), an MRI study showed. Unusual changes in connectivity also were seen to correlate with damage to the brain’s white…

Abnormalities found in sensory nerve cells — cells that detect body position and movement — derived from people with Friedreich’s ataxia (FA) may help explain the loss of coordination seen in FA patients, according to a cell-based study. These sensory nerves were unable to fully extend nerve fibers toward…

Researchers have developed and characterized mouse models of Friedreich’s ataxia (FA) carrying a rare disease-causing mutation, a study reports. The rare FXN gene mutation, dubbed G130V, is found in some FA patients alongside the common gene expansion defects seen in most cases. These patients experience less severe symptoms and…

Nerve and heart muscle cells derived from a man with Friedreich’s ataxia (FA) showed differences in the activity of multiple genes, a study reported. In nerve cells, deficiency in the frataxin protein, the underlying cause of FA, influenced genes related to energy-producing glucose metabolism, or glycolysis. In heart…

The investigational therapy DT-216 safely worked to more than double the activity of the FXN gene — involved in energy production in cells — in people with Friedreich’s ataxia (FA). That’s according to new data from a single-ascending dose (SAD) Phase 1 clinical trial, which showed the treatment candidate was…

Repeat use of G-CSF stem cell therapy, an approved medicine, was safe in adults with Friedreich’s ataxia and associated with significant elevations in frataxin protein and disease-related biomarkers, a pilot study in the U.K. reported. Because interventions that increase frataxin and reverse the harmful effects of the protein’s deficiency are…

Levels of the protein frataxin, which are abnormally low in people with Friedreich’s ataxia (FA), are further reduced by excess iron and increased protein degradation, a study found. Screening approved compounds in a yeast model identified those that prevented this additional frataxin loss in cells isolated from a patient,…

Children and adolescents with Friedreich’s ataxia (FA) who have an enlarged heart were found to have a high prevalence of irregular heartbeats, and were more likely to have early progression to end-stage disease, according to a nationwide U.K. study. The age of onset and the characteristics of heart enlargement…

Increased sodium levels were found in regions of the brain commonly affected by Friedreich ataxia (FA) — the cerebellum and brainstem — before structural changes, an MRI imaging study has demonstrated for the first time. The findings showed that increased sodium in these regions was related to an earlier…

Compounds that blocked the activity of histone deacetylases — enzymes that suppress gene activity — increased the activity of the FXN gene, which is low in people with Friedreich’s ataxia (FA) and limits frataxin protein levels, a proof-of-concept study demonstrated. Researchers used nerve cells derived from FA patients to screen…

Reata Pharmaceuticals has completed a rolling submission of a new drug application (NDA) seeking approval in the U.S. for its investigational oral therapy omaveloxolone to treat Friedreich’s ataxia (FA). In a rolling submission, companies can submit individual sections of review applications to the U.S. Food and Drug…

Reduced thickness of the peripapillary retinal nerve fiber layer (RNFL) in the eye’s retina is associated with worse disease severity in people with Friedreich’s ataxia (FA), an Irish study concluded. Follow-up measurements showed a thinning in this layer was linked to worsening disease severity, suggesting that regular eye assessments may…

People who have interruptions in a specific part of their GAA repeats in the FXN gene experience the onset of Friedreich’s Ataxia (FA) about nine years later than those without such breaks, a study found. These findings highlight the importance of GAA repeat interruptions on the course of FA,…

In addition to three recruiting clinical studies that were announced in June, an additional trial is seeking participants with Friedreich’s ataxia (FA) to investigate how the disease affects the brain, spinal cord, and cognition. Listed in a monthly newsletter released by the Friedreich’s Ataxia Research Alliance (FARA),…

Truncated forms of frataxin, the protein that is lost in people with Friedreich’s ataxia (FA), were found predominantly in mouse tissues, contrasting with the dominance of non-truncated frataxin in human tissue, a study found. The findings have implications for mouse models used to mimic the condition in disease research…

After nearly one year of its use, omaveloxolone (RTA 408) significantly improved neurological function across several clinical measures in people with Friedreich’s ataxia (FA), and was generally safe and well tolerated, according to results from the MOXIe Phase 2 trial.  These findings were published…

The natural antioxidant epicatechin significantly improves heart structure and function in young people with Friedreich’s ataxia (FA) over nearly six months of treatment, a small Phase 2 study has shown.  The findings support the need for larger trials that include…

Endurance exercise prevented the onset of symptoms without the need to restore frataxin production in a mouse model of Friedreich’s ataxia (FA), a study shows, potentially paving the way for clinical research on the impact of endurance exercise in patients.  The…

SNH6, a new dual-action therapy, has the potential to restore mitochondria function and may ultimately be used to treat cardiomyopathy in patients with Friedreich’s ataxia (FA), a mouse study found. The compound’s dual mechanism allows it to both…

Symptoms of depression significantly affect the quality of life of people with Friedreich’s ataxia (FA), a study has found.  The study, “Health-related quality of life and depressive symptoms in Friedreich ataxia,” was published in the journal…