Posts by: Marta Figueiredo

Marta Figueiredo

Marta Figueiredo holds a BSc in Biology and a MSc in Evolutionary and Developmental Biology from the University of Lisbon, Portugal. She is currently finishing her PhD in Biomedical Sciences at the University of Lisbon, where she focused her research on the role of several signalling pathways in thymus and parathyroid glands embryonic development.

January 14, 2021January 14, 2021

First In-human Trial of XCUR-FXN Planned for 2022

News

Exicure recently discussed preclinical research data and the next steps in developing XCUR-FXN, its investigational antisense oligonucleotide (ASO) therapy for Friedreich’s ataxia (FA), in a live webcast. After initiating investigational ... Read more

December 3, 2020December 3, 2020

PTC Therapeutics Launches Trial Testing Vatiquinone in Children, Young Adults

News

PTC Therapeutics has launched a Phase 3 clinical trial to evaluate its investigational oral therapy vatiquinone (PTC743) in children and young adults with Frederich’s ataxia (FA). The international trial had experienced ... Read more

November 26, 2020November 25, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

News, syndicated

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to ... Read more

November 5, 2020November 6, 2020

AavantiBio Launches With $107M to Advance Gene Therapy for FA

News

The gene therapy startup AavantiBio has launched with $107 million in funding to advance its lead clinical program for the treatment of Friedreich’s ataxia (FA). Early this year, the ... Read more

October 22, 2020October 22, 2020

CMS Approves New, Specific Diagnosis Code for Friedreich’s Ataxia

News

The Centers of Medicare & Medicaid Services (CMS) has approved a new, specific diagnosis code for Friedreich’s ataxia (FA) to be used by clinicians in medical records and examined ... Read more

August 20, 2020August 20, 2020

Suppressing Two Gene-silencing Enzymes May Hold Promise in FA, Study Shows

News

Simultaneous suppression of two histone methyltransferases (HMTs) significantly increased the activity of the FXN gene in cells derived from people with Friedreich’s ataxia (FA) and in a mouse model of ... Read more

July 23, 2020July 23, 2020

Phase 1 Trial of CTI-1601, Lab-made Frataxin, Dosing Final Patient Group

News

A safety and tolerability study of Larimar Therapeutics’ investigational therapy CTI-1601 has started dosing a third and final group of Friedreich’s ataxia (FA) patients, after a temporary pause due ... Read more

June 4, 2020June 4, 2020

Faster Progression Evident with Disease Onset Before Age 8, Study Shows

News

Children younger than age 8 with symptoms of Friedreich’s ataxia are at a higher risk of faster disease progression and earlier loss of walking abilities, a single-center natural history study in ... Read more

April 23, 2020April 23, 2020

Alterations in Nerve Cells’ Proteins May Lead to Neurodegeneration in FA, Mouse Study Suggests

News

Altered regulation of a protein called actin may contribute to neurodegeneration in Friedreich’s ataxia, according to a study in a mouse model of the disease. The work highlighted a ... Read more

April 9, 2020January 14, 2021

Exicure’s Program for Friedreich’s Ataxia Not Altered by COVID-19

News

The COVID-19 pandemic has not affected the preclinical program of XCUR-FXN, an experimental treatment for Friedreich’s ataxia (FA), Illinois-based Exicure said. Since biotechnology companies were designated essential businesses by ... Read more

March 26, 2020March 26, 2020

Design Therapeutics Launches with $45M to Advance Therapy Candidates for FA and Other Disorders

News

Design Therapeutics has launched with $45 million in funding to advance its lead candidate for the treatment of Friedreich’s ataxia into clinical development, and support programs for other nucleotide ... Read more

March 12, 2020March 12, 2020

Worsening Physical Impairments Affect Quality of Life in FA, Study Shows

News

Physical impairments that worsen with disease progression are the main contributors to a poor health-related quality of life among people with Friedreich’s ataxia (FA), according to a recent study. ... Read more

February 27, 2020February 28, 2020

HIV Therapy Etravirine Set to Enter Phase 2 FA Trial in Italy

News

Etravirine — an approved anti-viral therapy for HIV — is expected to soon enter clinical testing as a potential new treatment for Friedreich’s ataxia (FA) in a pilot Phase ... Read more

November 14, 2019November 14, 2019

Leriglitazone Earns European Commission’s Orphan Drug Designation for FA

News

Minoryx Therapeutics’ lead investigational therapy leriglitazone (MIN-102) has been granted orphan drug designation by the European Commission for treating patients with Friedreich’s ataxia (FA). The European Commission’s decision follows a similar designation granted by ... Read more

August 22, 2019December 19, 2019

Gene Editing in Patient-derived Heart Cells May Be Useful in FA

News

Removal of the genetic defect that causes Friedreich’s ataxia (FA) in heart cells derived from a patient with heart disease associated with FA reversed the cells’ abnormal molecular profile, ... Read more

November 1, 2018August 22, 2019

Vibration Device Fails to Halt Motor Deterioration in Children with Friedreich’s Ataxia, Small Study Shows

News

Muscle stimulation through focal vibrations produced by a specialized device may prevent further deterioration of motor function in children with cerebellar ataxia, but not in Friedreich’s ataxia patients, according to a ... Read more

September 11, 2018September 11, 2018

Gene Therapy Approach in Early Tests Shows Potential to Raise Frataxin Protein Levels in Cells

News

A treatment approach that uses genetically engineered proteins was able to significantly increase the levels of expression of the FXN gene, which is mutated in Friedreich’s ataxia, allowing for greater ... Read more

September 6, 2018September 6, 2018

Reduced Sweat in Patients May Be Biomarker of Friedreich’s Ataxia, Study Suggests

News

Friedreich’s ataxia patients produce less sweat than healthy people, which may be a useful biomarker of disease severity and progression, a recent study suggests. The study, “Sudomotor dysfunction is ... Read more

July 12, 2018July 12, 2018

Omaveloxolone Receives Orphan Drug Designation for FA from European Medicines Agency

News

Omaveloxolone, Reata Pharmaceuticals’ investigational candidate for the treatment of Friedreich’s ataxia (FA), has been granted orphan drug status from the European Medicines Agency. The EMA’s decision follows orphan drug designation ... Read more

May 3, 2018February 12, 2019

UK Pilot Study to Evaluate Effects of Stem Cell Therapy in Friedreich’s Ataxia Patients

News

The clinical benefits of stem cell therapy in Friedreich’s ataxia patients will be assessed in a small pilot study at the University of Bristol in the United Kingdom. Friedreich’s ataxia (FA) ... Read more