Marisa Wexler, MS,  senior science writer—

Voyager Therapeutics expects to begin clinical testing of its experimental gene therapy for Friedreich’s ataxia (FA) in 2026. The company last year announced the selection of its FA gene therapy candidate, which is being developed in collaboration with Neurocrine Biosciences. At the time, Voyager had said…

Larimar Therapeutics plans to ask the U.S. Food and Drug Administration (FDA) this year to grant accelerated approval to nomlabofusp, its experimental treatment for Friedreich’s ataxia (FA). “The strong clinical and regulatory progress across our nomlabofusp program reinforces the timing of our planned Biologics License Application (BLA)…

Errors during repair when DNA gets damaged may give rise to the mutations that cause Friedreich’s ataxia, a study revealed. The study, “Recurrent DNA nicks drive massive expansions of (GAA)n repeats,” was published in PNAS. A cell’s DNA stores the instructions to make the proteins and…

The U.S. Food and Drug Administration (FDA) has given Solid Biosciences the go-ahead to start clinical testing of SGT-212, the company’s novel gene therapy candidate for Friedreich’s ataxia (FA). According to Solid, SGT-212 is the only experimental gene therapy of its kind to target “both neurologic and…

In adults with Friedreich’s ataxia (FA), treatment with nomlabofusp may increase levels of frataxin protein to at least half of what’s typically seen in people who don’t have the disease, according to new analysis of clinical trial data. The analysis also predicted that use of the experimental therapy…

Key takeaways from the webinar include the complexity of the relationship between FA patients and caregivers, and the importance of practicing open communication and empathy and asking for help when necessary.

PTC Therapeutics says it’s planning, by this December, to ask the U.S. Food and Drug Administration (FDA) to approve its oral therapy vatiquinone — which has been tested in pediatric patients as well as adults — as a treatment for Friedreich’s ataxia (FA). “We look forward to…

People with Friedreich’s ataxia often show abnormalities in their eye movements and looking for characteristic changes there may help diagnose the disease and track its progression, a review study finds. “Quantitative oculomotor [eye movement] testing in [Friedreich’s ataxia] may facilitate early diagnosis and provide value in monitoring disease…

Design Therapeutics is on track to start clinical trials next year of its new and improved experimental treatment for Friedreich’s ataxia (FA), called DT-216P2. “Leading our portfolio of potential first- or best-in-class therapies is DT-216P2 for FA, a serious neurodegenerative disease with a significant need for new therapies,…

A low dose of calcitriol, an activated form of vitamin D used to help manage hypoparathyroidism and other disorders, led to statistically significant increases in frataxin protein levels among people with Friedreich’s ataxia in a small clinical trial conducted in Spain. Although patients in the yearlong study did…

Thanks to a philanthropic donation of up to £650,000 (about $825,000), the Oxford-Harrington Rare Disease Centre (OHC) is offering two new grant programs to support the development of treatments for Friedreich’s ataxia (FA). The new awards, dubbed The FA Alliance Catalyst Fund and The FA Alliance Innovation Fund,…

An experimental compound called ATH434, currently being evaluated in clinical trials for a neurological disorder called multiple system atrophy, also may have the potential to treat Friedreich’s ataxia (FA). Data specifically indicate that ATH434 could help to reduce the toxic buildup of iron in cells that is characteristic…

A deficiency of frataxin, the protein whose lack causes Friedreich’s ataxia, leads to problems with mitochondrial translation — the molecular process by which new proteins are made in the mitochondria, the so-called powerhouse of the cell responsible for energy production — according to a new study. The findings specifically…

The European Commission has approved Skyclarys (omaveloxolone) for people with Friedreich’s ataxia (FA) ages 16 and older, making the treatment the first to win approval for FA in the European Union. The decision comes just a few months after a committee of the European Medicines Agency (EMA) issued…

People in the Friedreich’s ataxia (FA) community await the possibility of gene therapies for their disease, with many saying they would participate in gene therapy trials regardless of the potential for side effects or other consequences. Around half of the survey’s 137 respondents expected that such treatment — delivering…

Hot topics of the Nov. 1 webinar included the challenges of living with Friedreich's ataxia, strategies for success, and the recent "game-changing" therapy approval. Read more about the highlights here.

Therapies that aid mitochondria, cellular organelles responsible for producing most of the energy needed by cells, may help with physical function and heart health in people with Friedreich’s ataxia (FA), according to a review of published studies. Findings appear to support the benefits of Skyclarys (omaveloxolone), the only…

Analyzing patients’ voices using machine learning may help to identify Friedreich’s ataxia (FA) and differentiate it from other neurological disorders, a new study shows. “The implications of this approach are substantial and provide new opportunities for healthcare, particularly for remote and rural areas where access to health providers might…

People with Friedreich’s ataxia who were treated with Skyclarys (omaveloxolone) in the MOXIe trial and its extension for three years had more than 50% slower disease progression compared with patients in a natural history study, according to a new analysis. “The present results show a meaningful slowing of…

Treatment with interferon gamma (IFN-gamma), an immune signaling molecule, helped to protect against damage in a cellular model of Friedreich’s ataxia (FA), a study reports. Although IFN-gamma failed to show clear benefits in clinical trials, these new findings “could help in the design of better therapeutic schedules and shed…

In a deal worth more than $7 billion, Biogen is acquiring Reata Pharmaceuticals, the developers of Skyclarys (omaveloxolone), which earlier this year became the first approved treatment for Friedreich’s ataxia in the U.S. “This is a unique opportunity for Biogen to bolster our near-term…

The U.S. Food and Drug Administration (FDA) has greenlighted a request by Larimar Therapeutics to test a 50 mg dose of CTI-1601 on people with Friedreich’s ataxia (FA) and cleared the company to begin an open-label extension study of the treatment. “Gaining clearance to advance to a…

Measuring abnormalities in the neurological circuits the brain uses to make sense of sound could be a useful way to track the severity of Friedreich’s ataxia in people with the disease as well as in laboratory models, a new study reports. The study, “Auditory neuropathy in…

Fredrich’s ataxia (FA) impairs the regulation of hundreds of genes in muscle cells, resulting in reduced activity in those responsible for mitochondrial function and increased activity of repressor genes, a study reports. Addressing both aspects of this genetic abnormality “double hit” may be necessary to achieve the best therapeutic…

A new assay to measure levels of the frataxin protein in blood could be used to assess the effectiveness of treatments in early clinical trials. The researchers showed that measuring frataxin with this method, which uses pig blood as part of the standardization procedure, could distinguish between people with or…

Motion-capture suits can be combined with machine learning to predict how Friedreich’s ataxia (FA) will progress, a new proof-of-concept study shows. The technology may help to improve the efficiency of clinical trials in FA and other slowly progressing diseases, according to researchers. The study, “A wearable…

Abnormalities in the light-sensing cells of the eyes are detectable in carriers of Friedreich’s ataxia (FA), but do not appear to affect parts of the pathways that are essential for vision so carriers do not experience visual impairment. That’s according to a study, “Retinal and Visual…

Objective measures of eye movement abnormalities are associated with measures of disease severity in Friedriech’s ataxia (FA) and other hereditary ataxias, a new study reports. “We have shown that characteristic oculomotor [eye movement] abnormalities can be quantified by the use of eye movement recordings in hereditary ataxias, and that…

Among people with Friedreich’s ataxia, thinner layers of nerve cells at the retina — the light-sensing cells located at the back of the eye — are associated with more severe disease and lower frataxin protein levels, a study reported. Results suggest that measuring the thickness of these retinal nerves…

Researchers have developed statistical models to help predict the progression of Friedreich’s ataxia using data such as age at disease onset and genetic information. Although the models are not yet accurate enough to be employed in clinical use, the researchers said this is a first step toward individualized medicine…

People with Friedreich’s ataxia show marked abnormalities in the structure of the upper spinal cord, some of which are correlated with measures of disease duration and severity, a study reports. “These results provide new insights about [the development of Friedreich’s ataxia] and indicate that spinal cord MRI may be…

A $4.8 million grant from the California Institute for Regenerative Medicine (CIRM) will support a research project hoping to move a one-time gene editing treatment for Friedreich’s ataxia closer to clinical trials. “If successful, this approach could prevent the neurologic and cardiac complications in [Friedreich’s ataxia] and address the pressing…

In a reversal, the U.S. Food and Drug Administration (FDA) has informed Reata Pharmaceuticals that it will not hold an advisory committee meeting to discuss the company’s application for omaveloxolone, its oral treatment candidate for Friedreich’s ataxia. The FDA’s reversal means that patients and the FA community will…

A mutation in the gene SIRT6 is associated with less severe neurological symptoms and visual impairment among people with Friedreich’s ataxia, a new study reports. “We have identified a [mutation] in SIRT6 as a potential modifier of [Friedreich’s ataxia] neurological features,” researchers wrote. “The less common CT genotype…

A new mouse model called YG8-800, which accurately captures key features of Friedreich’s ataxia such as neurological dysfunction and heart disease, could be a useful tool for studying genetic therapies for the disease. That’s according to the study, “A promising mouse model for Friedreich Ataxia progressing…

The Friedreich’s ataxia community wants to get people talking about ataxia — a group of disorders that affect co-ordination, balance, and speech — for this year’s International Ataxia Awareness Day (IAAD), which takes place on Sept. 25. “A great way to spread awareness is to encourage people to…

Skin cells of people with Friedreich’s ataxia (FA) show dysregulated levels of fat molecules, including abnormal levels of a class of fats called ceramides that are important for maintaining cellular membranes, a new study shows. Moreover, the researchers noted that impairments in fat molecules known as lipids “predicted the…

Note: This story was updated on Aug. 10, 2022, to add the U.S. Food and Drug Administration has extended its review of the omaveloxolone application through the end of February. Following a meeting with the agency, Reata Pharmaceuticals has submitted new data to the U.S. Food and Drug Administration…

Mutations that cause Friedreich’s ataxia lead to abnormalities in how nerve fibers grow and reduce their ability to repair themselves, according to a study done in mouse cells. These differences may contribute to nerve cell degeneration that is characteristic of the disease, researchers say. The study, “Frataxin…

Astrocytes, a type of support cell in the brain, showed metabolic defects and unusual pro-inflammatory activity that likely contributes to neuronal dysfunction in a cell model of Friedreich’s ataxia (FA), according to a new study. Results also indicate that treatment with a molecule called smoothened agonist (SAG) can normalize…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

The U.S. Department of Defense (DoD) is offering grant awards to researchers working to improve care for Friedreich’s ataxia. The DoD’s Congressionally Directed Medical Research Programs (CDMRP) is a funding organization whose goal is to further the development of new approaches to address specific areas of biomedical research as…

Targeting the end regions of FXN mRNA – the intermediary molecule used to make frataxin – may allow cells to make more of this protein, whose absence causes Friedreich’s ataxia, a new study shows. “We demonstrated a novel approach to increase intracellular levels of FXN mRNA and protein based…

A team of scientists at Koc University in Turkey has created three new cell models of Friedreich’s ataxia (FA) derived from patients with repeat expansions in their FXN gene. The models “will facilitate studies to understand molecular mechanisms related to FRDA [Friedreich’s ataxia] pathology [disease processes] as well as therapeutic…

This year’s rideATAXIA Dallas, a cycling event that raises money to support research into treatments for Friedreich’s ataxia, will take place Nov. 6. The event will feature in-person rides at UNT Discovery Park in Denton, Texas. Four route options are available: three, six, 27, and 50 miles. Registration…

Reata Pharmaceuticals is planning to ask the U.S. Food and Drug Administration (FDA) to approve omaveloxolone to treat people with Friedreich’s ataxia (FA) early in 2022, following the completion of a preliminary meeting with the agency. “Omaveloxolone could be the first drug approved for the treatment of Friedreich’s…

Researchers have developed a new system that might better measure walking or gait problems in people with Friedreich’s ataxia and other nerve and muscle conditions. The study describing this method was published in the journal Sensors, as “Gauging Gait Disorders with a Method Inspired by Motor Control…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

The U.S. Food and Drug Administration has put a hold on the clinical development of CTI-1601, an investigational treatment for Friedreich’s ataxia (FA) that is being developed by Larimar Therapeutics. According to a press release from Larimar, the hold was put in place after Larimar notified the…

Leriglitazone, an oral treatment candidate for Friedreich’s ataxia (FA), can increase frataxin levels and reduce neuronal degeneration in cell and animal models of the disease, a study found. Along with promising clinical findings from a Phase 2 clinical trial (NCT03917225), the results support the use of leriglitazone, and the…