Author Archives: Magdalena Kegel

The production and function of mitochondria — cellular power plants that convert nutrients to energy — is impaired in the cerebellum of the brain in early stages of a Friedreich’s ataxia mouse model, researchers at Children’s Hospital of Philadelphia report. The findings support the idea that the cerebellar disease in…

In patients with Friedreich’s ataxia, the severity of the mutation in the frataxin gene may become worse over time, according to a study published in the journal PLOS ONE. This insight has an impact on the understanding of the timing of symptom onset, and is crucial for the…

Sensory neurons derived from patients with Friedreich’s ataxia may be a valuable model for studying disease processes and test new treatments, researchers from the Université Libre de Bruxelles in Belgium argued. The neurons, grown from patients’ stem cells, capture many of the features researchers believe are key disease mechanisms…

Biomarin has selected a potential therapy candidate to test in human clinical trials in Friedreich’s ataxia. The compound, BMN 290, turns the frataxin gene back on by altering the three-dimensional structure of the genetic sequence. Tests in animal models of Friedreich’s ataxia show that BMN 290 increases frataxin production…

Among all efforts made to advance research and treatment development in Friedreich’s ataxia (FA), one stands out: the Friedreich’s Ataxia Global Patient Registry run by the Friedreich’s Ataxia Research Alliance (FARA). This FA registry aims to collect data from patients worldwide to make clinical trial recruiting a more efficient…

A University of Pennsylvania medical professor has won an American Chemical Society award for his pioneering work on the molecular abnormalities that underpin Friedreich’s ataxia. Dr. Ian A. Blair received the 2017 Founders’ Award from the society’s Division of Chemical Toxicology for helping to increase understanding of the abnormalities. Blair is the A.N.

Research into how abnormalities in the large area of the brain are part of Friedreich’s Ataxia disease processes will advance understanding and improve the chances of finding new treatments, researchers from Australia’s Monash University contend in a review. But research needs to focus on larger, multi-modal studies that will allow both…

Researchers at the Children’s Hospital of Philadelphia (CHOP) have linked the presence of diabetes in Friedreich’s ataxia (FA) patients to more severe symptoms and a reduced capacity to manage daily living tasks. These insights suggest that identifying patients with diabetes and more actively managing their disease might help improve their health…

People with late-onset Friedreich’s ataxia have similar, but not identical, abnormalities of brain structures as those who become ill at an earlier age, researchers recently demonstrated. The study sheds light on why the features of the disease differ in people with early and late onset. Researchers also argued that their…

Pfizer is seeking a European patent on a family of compounds that can treat Friedreich’s ataxia by increasing levels of the frataxin protein that is lacking in the disease. It noted in its patent application that Resverlogix has already developed a therapy called apabetalone (RVX-208) that is based on the compounds.

Gait speed might be used as an objective measure to assess disease progression in adults with Friedreich’s ataxia who are still able to walk, according to a small study which suggested that the measure is more sensitive in detecting neurological changes in the short term. Because current tools for measuring…

A type of compound called HDAC inhibitors show promise as therapy for Friedreich’s ataxia, according to two researchers at The Scripps Research Institute in California. However, current drug candidates need to be improved to be suitable for use in a chronic condition such as Friedreich’s ataxia. In the study,…

Friedreich’s ataxia patients’ cognitive decline is linked to changes in brain networks — but the changes go beyond the movement-related cerebellum and spinal cord neuron degeneration associated with the disease, a study suggests. The findings led the research team to suggest that Friedreich’s ataxia is a multisystem disorder. The implication is…

Identifying the underlying cause, and setting a diagnosis of ataxia is crucial, since therapies are available for some cases of immune-mediated or genetically acquired ataxias. A review of all diagnoses among a large sample of ataxia patients revealed that familial ataxias, including Friedreich’s ataxia, represent only a small proportion of…

The selective degeneration of certain neurons in patients with Friedreich’s ataxia may be explained by the effect that the lack of frataxin has on nervous system cells called astrocytes. Researchers discovered that mice, which grew up without frataxin, had abnormal astrocytes in their cerebellum, while those cells in the front of…

A case report suggests that Friedreich’s ataxia can manifest as abnormal voluntary eye movements, rather than the typical loss of gait and limb control. To reduce the risk of misdiagnosis, researchers behind the report urge neurologists to bear in mind that the symptoms of the disease can vary widely, possibly…

Noninvasive measurements of mitochondrial capacity in skeletal muscle of patients with Friedreich’s ataxia could be used to monitor disease severity and progression, according to a recent study. In contrast, the study failed to find a link between mitochondrial capacity or muscle endurance to perceptions of fatigue. The study,…

Horizon Pharma has dropped its entire Actimmune (interferon gamma-1b) clinical development program in Friedreich’s ataxia following the failure of a Phase 3 trial which aimed to show that the treatment improves outcomes of the disease. The results are disappointing for patients with a disease lacking any effective treatment. The STEADFAST…

DNA-like compounds that appear to correct the abnormal three-dimensional structures formed in the mutated region of the frataxin gene — the culprit of Friedreich’s ataxia — may open research into how the atypical structures prevent the gene from working. This, in turn, could lead to the development of drugs that…

Heart cells grown from patient-derived, induced pluripotent stem cells can provide plenty of information about heart disease in Friedreich’s ataxia, a recent review argues, underscoring that such cell models are also the way forward to advance discovery of drug therapies. However, the review, “Using human pluripotent stem…

Younger Friedreich’s ataxia patients have an abnormal assembly of heart structures called intercalated discs (ICD) which prevent proper transmission of signals between heart muscle cells and contribute to heart disease. The study, “The significance of intercalated discs in the pathogenesis of Friedreich cardiomyopathy,” published in the…

Injections of vitamin B1 improved several symptoms in patients with Friedreich’s ataxia and kept patients from deteriorating further over a two-year period, according to a recently published study. While researchers caution that the results need to be verified, the findings open up the possibility of an entirely new way of approaching…

While speech difficulties in patients with Friedreich’s ataxia are not linked to the severity of disease, certain speech aspects associated with age at disease onset and disease duration may be valuable for accessing the disease even at mild levels of severity, according to the study “Voice in Friedreich’s Ataxia” recently published in the…

The severity of the frataxin mutation, which causes Friedreich’s ataxia (FA), is the main factor determining the speed of the disease’s progression, next to age — a finding that may improve the design of future clinical trials for Friedreich’s ataxia therapies, researchers found. The study, “Progression of Friedreich ataxia:…

Researchers have created a cell model that will allow the study of molecular changes that result from the loss of the Friedreich’s ataxia (FA) protein frataxin at different time points in development. The model will likely advance knowledge into the molecular consequences of frataxin loss, and will allow both the identification…

Researchers report identifying two potential blood biomarkers of Friedreich’s ataxia disease progression and drug response that could be used, in addition to frataxin levels, as tools in future clinical trials of the disease. The study, “Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug…

Friedreich’s ataxia (FA) patients have elevated blood levels of a factor indicating increased collagen production, a finding that researchers could link to remodeling of heart tissue. These findings could help identify heart problems in FA patients, especially because heart conditions represent the typical cause of death in Friedreich’s ataxia. The study,…

Researchers at Weill Cornell Medical College in New York have discovered mechanisms that explain how a mutation in the frataxin gene — the cause of Friedreich’s ataxia — prevents the production of the frataxin protein, and also discovered a process by which the mutations expand. The study, “…

Neurodegeneration in Friedreich’s ataxia can be independent of faulty mitochondria and oxidant molecules. Rather, researchers at Baylor College of Medicine in Houston, Texas, demonstrated that iron toxicity contributed to disease processes in a fruit fly model of the disease. The study, “Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and…

Production of frataxin protein in most Friedreich ataxia patients is blocked by gene mutations that prevent the reading (transcription) of the gene, but new research shows that the obstruction can be overcome using a drug to block HDAC (histone deacetylator) enzymes involved in the process and that the effect of the…

People with Friedreich ataxia have lower than usual levels of cell-free mitochondrial DNA circulating in the bloodstream, but higher levels of nuclear DNA, a finding that might result in new biomarkers to monitor these patients in clinical trials. Research in Friedreich ataxia would benefit from the existence of a non-invasive biomarker of…

Although Friedreich’s ataxia is mainly associated with the degeneration of neurons, a recent report shows that glial satellite cells in the spinal cord are also affected by the frataxin gene mutation. This appears to be a process independent of neuronal cell death, and likely contributes to disease manifestations in Friedreich’s…

Scientists at University College London have, for the first time, described the full sequence of faulty mitochondrial processes in a Friedreich’s ataxia mouse model. Findings show that dysfunctional mitochondria directly contribute to cell death through lipid peroxidation in disease-affected neurons – a degradation of cellular lipids that if prevented,…

The National Ataxia Foundation (NAF) has presented a researcher from Belgium, Simona Donatello, with its Young Investigator Research Award for her work on molecular mTOR pathways affecting frataxin expression in Friedreich’s ataxia, possibly unearthing novel drug targets for the treatment of the disease. Dr. Donatello, with  the Universite Libre de Bruxelles, aims to…

Among the recently distributed National Ataxia Foundation (NAF) research awards, Ricardo Mouro Pinto, Ph.D., from Massachusetts General Hospital Harvard Medical School, received a Young Investigator Award for his work on DNA repair genes that might contribute to the expansion of the GAA repeat mutation in Friedreich’s ataxia. The…

The National Ataxia Foundation (NAF), which supports ataxia research, has given a NAF Research Seed Award to Liliana Simões Mendonça from the University of Coimbra, Portugal, for work on the transplantation of neural stem cells derived from induced pluripotent stem cells in Machado Joseph disease. Also known as spinocerebellar ataxia type…

A study supported by a research grant from the National Ataxia Foundation (NAF) will explore the underlying mutation of the recently described spinocerebellar ataxia, type 41 (SCA41). In addition to producing new insights into spinocerebellar ataxia mechanisms, the study could contribute to improved diagnostics. Only one case with spinocerebellar ataxia and a…

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. In a project focusing on autosomal recessive cerebellar ataxia 2, Pankaj Kumar Singh at the Institut Génétique Biologie Moléculaire Cellulaire, in France, explores how mitochondrial defects contribute to disease mechanisms in…

The National Ataxia Foundation (NAF) recently awarded four post-doctoral fellowship grants covering various aspects of ataxia research. Magda Matos Santana at the Center for Neuroscience and Cell Biology, in Portugal, was among the recipients, recognized for her exploration of advanced models based on induced pluripotent stem cells (iPSC) of Machado-Joseph disease (MJD)…

Percy Tumbale, of the National Institute of Environmental Health Sciences, National Institutes of Health recently received a Young Investigator Research Award from the National Ataxia Foundation (NAF), to cover her ongoing research on aprataxin mutations in ataxia oculomotor apraxia 1 (AOA1). Ataxia generally refers to the muscle coordination loss…

The severity of abnormal glucose regulation in people with Friedreich’s ataxia (FA) is linked to the extent of their genetic mutation, according to researchers at The Children’s Hospital of Philadelphia — a finding that might deepen understanding of disrupted glucose metabolism in FA patients. The genetic mutation underlying Friedreich’s ataxia is composed of repeats of…

In Friedreich’s ataxia, neurodegeneration related to dysfunctional iron metabolism has been described in the cerebellum – a brain region crucial for movement coordination. A new study, however, shows that disturbed iron metabolism with resulting tissue damage is far more widespread, and may serve as a biomarker of disease progression or…

Mutations in the FXN gene — responsible for Friedreich’s ataxia (FA) — mainly come in the form of repeats of three DNA bases, GAA, at the start of the gene. Cases where one gene copy holds a repeat mutation and the other copy contains another kind of mutation account for only 2 percent to 4 percent…

The Illinois Biotechnology Industry Organization (iBIO) recently announced that Kyle Bryant, founder and director of Ride Ataxia, Friedreich’s Ataxia Research Alliance, will be one of the keynote speakers for the 2016 iBIO Industry Exposition (iBIO, IndEx) at the Hilton Orrington in Evanston, Illinois, April 19-20. The meeting, whose theme is “Converge to…

Researchers have long known that — due to a genetic mutation —  the levels of the protein frataxin are decreased in Friedreich’s ataxia. Because of the neurological nature of the disease, the effects of the mutation have mainly been studied in neurons within the central nervous system, and not much is known about…