Author Archives: Maureen Newman

Although the basis of Friedreich’s ataxia lies in a genome-wide mutation in the frataxin gene that encodes the frataxin protein, not all tissues are affected by the disease. Some tissues function adequately, while others such as neuronal and cardiac tissues suffer from degenerated ability to function. Researchers have found that…

A screen of molecules known as short-hairpin-loop-RNA (shRNA) revealed that certain features of Friedreich’s ataxia can be relieved through two specific shRNA sequences. In the laboratory of Dr. Robert B. Wilson at University of Pennsylvania School of Medicine, researchers conducted a study that exposed cells isolated from Friedreich’s ataxia patients…

Often times, researchers focus on cells from the brain or the heart when studying Friedreich’s ataxia. A new study from Brunel University London and University of Cambridge in the United Kingdom chose instead to focus on blood leukocytes and skin fibroblasts from patients with Friedreich’s ataxia. The reasoning was based…

A remarkable new tool in the world of genetic biology is being applied to study Friedreich’s ataxia. TALEN and CRISPR methodologies, which have been the subjects of recent patent battles, are powerful gene modifying techniques that can easily add or remove sequences to mimic the mutations…

Maintaining iron balance in the mitochondria is of great importance to cell health and is a prominent area of study to understand Friedreich’s ataxia. Frataxin protein deficiency in Friedreich’s ataxia leads to accumulation of iron in the mitochondria, leading to extensive reactive oxygen species (ROS) damage and cell death. A group…

Patients with Friedreich’s ataxia are at a high risk for developing hypertrophic cardiomyopathy, where the walls of the heart become thicker than normal. Little is known about hypertrophic cardiomyopathy disease progression in Friedreich’s ataxia patients, although the condition can be severely life-limiting. To address this lack…

Rating scales used to succinctly describe the severity of Friedreich’s ataxia and the impact on patients’ quality of life have a tradeoff between being comprehensive enough to adequately describe patient symptoms and overly detailed and complicated. A new study published in Journal of the Neurological Sciences…

Patients with Friedreich’s ataxia have genetic mutations that lead to frataxin protein deficiency, but when their cells are treated in vitro with a class of molecules called Src inhibitors, frataxin protein accumulates. This finding was the result of a series of experiments described in the article, “…

A long string of DNA repeats are the molecular basis for Friedreich’s ataxia. The beginning of the first intron of FXN, the gene encoding the protein frataxin, has an abnormally large number of GAA repeats in Friedreich’s ataxia patients compared to normal individuals. A large body of evidence shows that…

It is well known that a DNA mutation causes Friedreich’s ataxia by reducing the production of frataxin protein. Patients with Friedreich’s ataxia often have several hundred “GAA repeats” in their DNA, whereas unaffected individuals have no more than 40 GAA repeats. What is less known is how exactly GAA repeats…

Patients with Friedreich’s ataxia may have more damage to brain cells than was previously thought. A study from University of Duisburg-Essen in Germany led by Dr. Maria R. Stefanescu and principal investigator Dr. Dagmar Timmann used magnetic resonance imaging (MRI) to look at the levels of atrophy in various…

A research group in Germany at University of Regensburg that considers Friedreich’s ataxia “the most important recessive ataxia in the Caucasian population” is breaking down the complex disease using genetically modified fruit flies. Appearing in the journal Free Radical Biology and Medicine, their most…

Inhibitors of 2-aminobenzamide histone deacetylase (HDAC) are a proposed new treatment for Friedreich’s ataxia. Applying HDAC inhibitors to neuronal cells derived from Friedreich’s ataxia patients’ induced-pluriopotent stem cells results in an increased expression of frataxin mRNA transcripts and protein. A group of researchers at The Scripps Research Institute in…

The vast majority of patients with Friedreich’s ataxia develop symptoms in the first or second decade of life, enabling an early diagnosis and early medical attention to alleviate symptoms of the disease. However, a small number of patients develop late-onset Friedreich’s ataxia (LOFA) between the ages of 25 and…

Although German physician Nikolaus Friedreich first recognized Friedreich’s ataxia in 1863, it was not until 1996 that two scientific teams discovered the underlying cause of the disease: a mutation in the gene for frataxin protein. Since that time, researchers have identified two types of mutations that cause Friedreich’s ataxia…

At Baylor College of Medicine in Houston, Texas, researchers are developing a genetic toolkit to help study ataxia. Marife Arancillo, PhD, was awarded a Post-Doc Fellowship Award for her work in “Neural Mechanisms of Cerebellar Function in Ataxia.” As part of this…

As the most prevalent form of ataxia, Friedreich’s ataxia represents a major focus for research in the field of understanding disease mechanisms. Rising to the demand is researcher Simona Donatello, PhD at Universite Libre de Bruxelles in Brussels, Begium. Dr. Donatello was recognized by the National Ataxia Foundation…

Joining Friedreich’s Ataxia in the list of ataxias is spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease. This disease is caused by mutations in the gene encoding protein ataxin-3 (ATXN3), unlike Friedreich’s ataxia, which is caused by a mutation in the gene encoding frataxin protein (FXN). Similar…

Earning the Pioneer SCA Translational Research Award from the National Ataxia Foundation, Thorsten Schmidt, PhD at University of Tubingen in Germany is developing a novel treatment for spinocerebellar ataxia type 3 (SCA3). His winning research, “Targeting the Intracellular Localization of Ataxin-3…

Reata Pharmaceuticals, Inc. has announced that it has enrolled the first patient in a new Friedreich’s Ataxia clinical trial in collaboration with AbbVie, and the Friedreich’s Ataxia Research Alliance. In their currently recruiting phase 2/3 clinical trial, “RTA 408 Capsules in Patients with Friedreich’s Ataxia – MOXIe,” safety…

Vitamin B3, a water soluble vitamin essential to processing fat and proteins in the human body, may also prove important to treating Friedreich’s Ataxia. A currently recruiting clinical trial from Imperial College London is studying the “Effect of Nicotinamide [Vitamin B3] in Friedreich’s Ataxia” to…

Not all clinical trials vital to understanding Friedreich’s ataxia involve new therapies under evaluation before being marketed as treatment. Ronald Crystal, MD, of Weill Medical College of Cornell University in New York is sponsoring an observational case control study for “Characterization of the Cardiac Phenotype…

Patients with Friedreich’s ataxia commonly have difficulty walking due to imbalance issues or trouble conducting daily activities due to reduced upper arm function. Theresa Zesiewicz, MD, FAAN, from the University of South Florida (USF) in Tampa, is seeking to the study the course of these pains and is sponsoring a…

A large, international clinical trial sponsored by European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) is currently recruiting 650 patients with genetically confirmed Friedreich’s Ataxia to benefit future research efforts through data acquisition and validation. “Patient Registry of the European Friedreich’s Ataxia Consortium for Translational…

Friedreich’s ataxia patients are at a risk of developing foot drop deformity, or the loss of dorsiflexion and eversion (up-and-down movement), in the ankle joint. A clinical trial sponsored by Royal National Orthopedic Hospital NHS Trust in London is seeking to test head-to-head two methods of treating foot drop…

When testing new compounds to treat Friedreich’s ataxia (FA), it is vital to have a metric for determining the efficacy of these compounds. Some studies have suggested using the iron content of dentate nuclei in the cerebellum as a biomarker for determining the efficacy of siderophores and antioxidants in…

Biopharmaceutical company Shire, is sponsoring a clinical trial for adults with Friedreich’s ataxia (FA) and is currently enrolling participants. The phase 1 clinical trial is evaluating VP 20629 (indole-3-propionic acid) against a placebo to investigate the safety, tolerability, pharmacokinetics, and pharmacodynamics of treatment in FA patients 18 to 45…

Although Friedreich’s ataxia is a condition with a known cause (a genetic abnormality on chromosome 9 that depletes cells of frataxin protein), some cases of the disease throw clinicians a curve ball. Such was the case for one 48-year-old man with a known diagnosis of Friedreich’s ataxia. He was…

Results are in for an open-label phase 2 clinical trial of interferon gamma (IFN-γ) treatment for Friedreich’s ataxia (FRDA) sponsored by Children’s Hospital of Philadelphia along with collaborators at the Friedreich’s Ataxia Research Alliance and Vidara Therapeutics Research Ltd. David Lynch, MD, PhD, served as the principal investigator. The…