Author Archives: Joana Carvalho

Leriglitazone, an oral treatment candidate for Friedreich’s ataxia (FA), is well-tolerated and can significantly prevent ataxia worsening and iron buildup in the brain, according to top-line data from a Phase 2 trial. The proof-of-concept study, called FRAMES (NCT03917225), also demonstrated that the therapy was able to improve a series…

When present at levels 20 times higher than normal, frataxin became toxic and caused heart problems in a mouse model of Friedreich’s ataxia (FA), a study found. According to the study authors, these findings underscore the importance of selecting an appropriate viral vector for gene therapy to ensure…

Reata Pharmaceuticals, along with a group of key opinion leaders and the Friedreich’s Ataxia Research Alliance (FARA), have proposed the launch of a study to confirm the effectiveness of omaveloxolone (RTA 408), the company’s investigational oral therapy for Friedreich’s ataxia (FA). If accepted by the…

Chondrial Therapeutics has merged with Zafgen, giving rise to Larimar Therapeutics, which will continue working to advance CTI-1601 as a possible frataxin replacement therapy for Friedrich’s ataxia (FA). Larimar’s arrival came about five months after Zafgen and Chondrial announced they had entered into a merger agreement. “We…

AVXS-401, an experimental gene therapy for Friedreich’s ataxia (FA), is safe, well-tolerated, and leads to clinically meaningful improvements in mice and primate models of the disease, early studies have found. According to researchers, these promising findings suggest that AVXS-401 is safe for human use and support beginning…

Scientists discovered two microRNAs — tiny RNA molecules that control the activity of several genes — playing a key role in the development of Friedreich’s ataxia (FA) that may be promising candidates for its treatment. Their findings were reported in the study, “A Comprehensive Transcriptome…

A Phase 2 trial testing leriglitazone as a potential oral treatment for Friedreich’s ataxia (FA) has recruited its target number of participants ahead of schedule. The multi-center, double-blind FRAMES study (NCT03917225) will assess leriglitazone in 39 participants, 12–60 years old, who were recruited in four and a…

An individual’s ability to control facial muscles might be better than other tools commonly used to measure disease progression among patients with advanced Friedreich’s ataxia (FA), a study says. The findings in “Oral mobility reflects rate of progression in advanced Friedreich’s ataxia,” were published recently in the Annals…

Lab-cultured heart tissues derived from patients’ stem cells are a suitable model to study the progression of Friedreich’s ataxia (FA) and to develop and test new therapies, a study says. The study, “Correlation between frataxin expression and contractility revealed by in vitro Friedreich’s ataxia cardiac tissue models engineered…

High uptake of iron and copper by cells, caused by an insufficiency of frataxin — the protein lacking in Friedreich’s ataxia (FA) — leads to a decrease in the levels of these trace metals in the blood, a study shows. The researchers say this finding may have application…

The thickness of the layer of nerve cells forming the back of the eye, or retina, may be used as a biomarker of Friedreich’s ataxia (FA) in future clinical trials, a study suggests. The study, “Peripapillary retinal nerve fibre layer thickness in Friedreich’s ataxia: a biomarker for trials?”…

Edge Research, funded by the Muscular Dystrophy Association (MDA), carried out a survey called ONEVoice to evaluate key areas of concern and devise solutions among carers, family members and patients with different types of neuromuscular disorders. ONEVoice, which took place from Jan. 18 to Feb. 20, involved…

Large interruptions of GAA repeats in the frataxin (FXN) gene are very rare among patients with Friedreich’s ataxia (FA), a study has found. However, when these are present, it may be of importance to disease progression, researchers say. The study, “Large Interruptions of GAA Repeat Expansion Mutations in…

Depression can be severe and clinically relevant among patients with Friedreich’s ataxia, and its symptoms are most often expressed as a lack of motivation and negative feelings toward self, a study reports. The study, “Depressive symptoms in Friedreich ataxia,” were published in the International Journal of Clinical and Health…

Serious games (SG) — video games designed with a primary purpose other than pure entertainment — are a reliable assessment tool for motor function in patients with advanced Friedreich’s ataxia (FA). This functional evaluation can also be used during rehabilitation therapy with the patient seated in a wheelchair. The study, “Automated functional…