FA News Briefs

DNA amino acid bases

Study Suggests a New Metric to Predict Disease Severity in Patients With FA

Disease burden, a novel metric encompassing both GAA triplet repeat length and disease duration, might be a more reliable tool for predicting Friedreich ataxia (FA) disease severity in small sample sizes than GAA triplet repeat length and disease duration alone, according to an article published in the journal Movement Disorders. Researchers used a cross-sectional data…

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Grant Awarded to Targeted Genome Editing Therapeutic Strategy

The Friedreich’s Ataxia Research Alliance (FARA) has awarded Vesigen Therapeutics a general research grant to develop a targeted genome editing therapeutic strategy for Friedreich ataxia (FA). Under the terms of the grant, Vesigen Therapeutics will evaluate the ability of its proprietary technology, called ARrestin-domain 1 Mediated Microvesicles (ARMMs), to deliver clustered regularly interspaced short palindromic…

Peter Marks

Top FDA Official Touts ‘Promise of Gene Therapy’ at MDA Annual Conference

DALLAS, Texas—Since 2017, the US Food and Drug Administration (FDA) has approved 12 gene therapies—including 5 in 2022 alone—compared to none less than a decade ago. That’s an indication of how quickly the gene therapy pipeline has evolved, a top FDA official pointed out. Peter Marks, MD, PhD, director of the FDA’s Center for Biologics…


Omaveloxolone May Have an Acceptable Hepatic Safety Profile FA

The results of a clinical trial evaluating the safety and efficacy of omaveloxolone in patients with Friedreich’s ataxia (FA) have shown an acceptable hepatic safety profile, as recently presented at the 2023 MDA conference. MOXIe part 2 is a double-blind, placebo-controlled trial evaluating omaveloxone in patients with FA. After the trial, patients were free to…

heart health

Omaveloxolone May Have a Manageable Cardiac Safety Profile in FA

Omaveloxolone has a manageable cardiac safety profile in patients with Friedreich’s ataxia (FA), according to a recently published posthoc analysis of cardiac safety assessments during the MOXIe Part 2 study as presented in the 2023 MDA conference. Cardiomyopathy is a complication experienced by more than two-thirds of patients with FA and is considered the main…

DNA mutation, AAV genetics

Trial of Experimental Gene Therapy for Cardiomyopathy in FA Currently Recruiting

A phase 1/2, open-label, dose-ascending, multicenter clinical trial set to evaluate LX2006 in patients with Friedreich ataxia (FA) and evidence of cardiomyopathy is currently recruiting. The trial, initiated on August 24, 2022, aims to enroll 10 patients with a confirmed genetic diagnosis of FA and an onset before 25 years of age. Additional inclusion criteria…

Mitochondria cross-section illustration

Study Reveals Molecular Basis of Mitochondria Dysfunction in FA Sensory Neurons

Deficient mitochondrial respiration has been found to impair sirtuin 3 activity in dorsal root ganglia (DRG) in Friedreich ataxia (FA) mouse and cell models, according to an article preprint posted on bioRxiv. The study has not yet been peer-reviewed. To evaluate the effects of frataxin deficiency in DRG neurons, the study authors analyzed primary cultures…

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Dr. Federico Stella on Using Nonrestrictive Diets After Stem Cell Transplantation

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Federico Stella, MD, on the controversial practice of severely restricting the diets of patients who have just undergone stem cell transplants. Read the full story here: Italian Hematologist Urges End to ‘Useless’ Restrictive Diets After Stem Cell Transplants

frataxin testing

New Transcription Factor Found More Effective Than Syn-TEF1 in FA Cells

A newly synthesized compound may enhance the transcription of repressed frataxin (FXN) in Friedreich ataxia (FA) cells more effectively than the previously reported Syn-TEF1 compound, according to an article published in Bioorganic & Medicinal Chemistry. Although the novel compound has low solubility in water and demonstrates cytotoxicity at high concentrations, 2-hydroxypropyl-β-cyclodextrin (HpβCD) may increase cell…

Mouse in exercise wheel

Novel Bioactive Fumarate Extends the Lifespan of an FA Mouse Model

Researchers developed a novel monomethyl fumarate prodrug with an improved pharmacokinetic profile that enhanced cardiac function and expanded the lifespan of a Friedreich ataxia (FA) mouse model, according to an abstract presented at the 67th Biophysical Society Annual Meeting in San Diego, California. The novel bioactive fumarate, IMF, but not dimethyl fumarate (Tecfidera®), extended the…

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