Posts by: Joana Carvalho, PhD

Joana Carvalho, PhD

Joana holds a BSc in Biology, a MSc in Evolutionary and Developmental Biology and a PhD in Biomedical Sciences from Universidade de Lisboa, Portugal. Her work has been focused on the impact of non-canonical Wnt signaling in the collective behavior of endothelial cells — cells that made up the lining of blood vessels — found in the umbilical cord of newborns.

September 17, 2020September 17, 2020

High Levels of Frataxin After Gene Therapy Caused Heart Problems in Mice

News

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 ... Read more

August 13, 2020August 13, 2020

FDA to Review Confirmatory Trial Proposal for Omaveloxolone

News

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 ... Read more

June 11, 2020June 11, 2020

Larimar Therapeutics Created Out of Merger, Will Advance Frataxin Therapy

News

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 ... Read more

May 21, 2020May 21, 2020

Investigational Gene Therapy AVXS-401 Shows Promise in Animal Models of FA

News

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 ... Read more

April 30, 2020April 30, 2020

Tiny RNA Molecules Involved in FA May Be Promising Treatment Candidates

News

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 ... Read more

October 10, 2019October 10, 2019

Phase 2 Trial of Leriglitazone Ready to Dose Patients After Completing Enrollment Ahead of Schedule

News

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 ... Read more

August 29, 2019September 11, 2019

Oral Mobility a Good Indicator of Disease Progression in Patients with Advanced FA, Study Says

News

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 ... Read more

August 8, 2019September 4, 2019

Lab-cultured Heart Tissues Derived from Stem Cells Deemed Suitable to Study FA

News

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 ... Read more

June 27, 2019October 2, 2019

Blood Iron and Copper Levels Abnormally Low in FA, Study Says

News

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 ... Read more

May 30, 2019May 30, 2019

Eye Retina Thickness May be Used as FA Biomarker in Future Trials, Study Says

News

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, ... Read more

February 21, 2019March 12, 2019

ONEVoice Offers Solutions for Patients with Neuromuscular Disorders

News

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 ... Read more

December 13, 2018December 13, 2018

Large Interruptions in GAA Repeats are Rare Among FA Patients, Study Finds

News

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 ... Read more

December 6, 2018December 6, 2018

Depression and Its Symptoms Can Be Severe in Friedreich’s Ataxia Patients, Study Says

News

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 ... Read more

October 16, 2018October 16, 2018

Serious Games Can Be Used to Assess Motor Function in Advanced FA Patients, Study Shows

News

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 ... Read more