Posts by: Alice Melão

News

Pfizer and REGENXBIO have established a new collaboration to develop gene therapies specifically designed to treat people with Friedreich’s ataxia. Under the terms of the agreement, Pfizer will be ... Read more

June 13, 2019August 2, 2019

MS Therapy Dimethyl Fumarate May Help Patients with Friedreich’s Ataxia, Study Suggests

News

Dimethyl fumarate, an approved therapy for multiple sclerosis (MS), may help people with Friedreich’s ataxia by increasing the amount of frataxin protein that is deficient in these patients, an ... Read more

June 6, 2019August 2, 2019

First Patient Dosed with Leriglitazone in Ongoing Phase 2 FRAMES Trial

News

A patient with Friedreich’s ataxia has been dosed with Minoryx Therapeutics’ investigational therapy leriglitazone in the ongoing Phase 2 FRAMES trial, the company announced. This first patient was enrolled ... Read more

March 14, 2019March 28, 2019

Phase 2 Trial of Potential Oral Therapy, MIN-102, Starting in Spain

News

Minoryx Therapeutics announced it will soon launch a Phase 2 trial in Spain to evaluate its lead therapeutic candidate, MIN-102, in patients with Friedreich’s ataxia. The study (2018-004405-64), named FRAMES, ... Read more

February 14, 2019February 22, 2019

Iron-induced Cell Death May Play Key Role in FA, Study Suggests

News

Iron-induced cell death may contribute to the progression of Friedreich’s ataxia, a study in human and mice cells shows. Inhibition of this degenerative mechanism may represent a new therapeutic ... Read more

January 10, 2019February 18, 2019

Generalized Abnormalities Seen in Both Right and Left Ventricles of FA Patients, Study Finds

News

Adult patients with Friedreich’s ataxia have generalized abnormalities in the structure and function of both left and right ventricles of the heart, a study shows. The study, “Differences in ... Read more

December 20, 2018February 25, 2019

HDAC Inhibitors Can Partially Reverse Genetic Signature Linked to FA, Study Shows

News

Treatment with histone deacetylase inhibitors (HDACi) can restore the cellular pathways that become impaired upon loss of functional frataxin protein in Friedreich’s ataxia, a study using stem cells shows. ... Read more

November 29, 2018November 29, 2018

Inhibition of FAST-1 Molecule May Have Therapeutic Potential in Friedreich’s Ataxia, Study Confirms

News

A naturally produced RNA molecule called FAST-1 can prevent the readout of the FXN gene and, consequently, production of the frataxin protein, contributing to the development of Friedreich’s ataxia, researchers ... Read more

November 20, 2018November 20, 2018

3 Blood Biomarkers May Be Used to Monitor Friedreich’s Ataxia Status, Study Suggests

News

High blood levels of three specific proteins may represent new biomarkers to monitor active immune cells and ongoing nerve cell damage in Friedreich’s ataxia, researchers suggest. These findings were ... Read more

October 18, 2018October 18, 2018

Noninvasive Evaluation of Eye’s Nerve Structures Can Help Predict Neurological Damage in FA, Study Finds

News

A noninvasive assessment of the nerve structures in the superficial membrane of the eye, known as the cornea, can help quantify the severity of nerve cell damage in patients ... Read more

September 21, 2018September 21, 2018

Iron Deregulation a Complex Consequence of Faulty Frataxin in Friedreich’s Ataxia, Review Study Says

News

Several studies have suggested that the deregulation of iron processing in the organism is an important feature of frataxin deregulation, and consequently of Friedreich’s ataxia, according to a review ... Read more

September 13, 2018September 13, 2018

Comprehensive MRI-based Study Reveals Brain Changes Linked to Friedreich’s Ataxia

News

A comprehensive evaluation of the brain with magnetic resonance imaging (MRI)-based methods and clinical features of Friedreich’s ataxia (FA) may provide valuable information to fully understand the neurological impairment linked ... Read more

August 30, 2018August 30, 2018

Researchers Report Rare Case of Friedreich’s Ataxia with Retained Reflexes

News

A rare case report of a 16-year-old boy with Friedreich’s ataxia who retained responsive tendon reflexes highlights the importance of recognizing unusual symptoms of the disease to enable proper ... Read more

August 2, 2018February 27, 2019

Long-term Treatment with EPI-743 May Prevent FA Progression in Patients, Phase 2 Results Show

News

Long-term use of EPI-743 (vatiquinone), an investigational therapy being developed by BioElectron, can improve neurological function and prevent disease progression in Friedreich’s ataxia (FA) patients, results from a Phase 2 clinical trial show. ... Read more

July 24, 2018July 24, 2018

PTC Expanding Gene Therapy Portfolio by Buying Agilis Biotherapeutics

News

PTC Therapeutics announced it will acquire Agilis Biotherapeutics, a company focused on the development of gene therapies targeting rare diseases that affect the central nervous system (CNS). The acquisition will ... Read more

June 19, 2018June 19, 2018

Cancer Treatment May Be Able to Prevent Heart Problems in Friedreich’s Ataxia, Study Suggests

News

A therapy already approved to treat cancer could potentially be used to prevent heart abnormalities in Friedreich’s ataxia patients, according to a study that used a fruit fly model ... Read more

June 12, 2018March 15, 2019

In FA Case Study, Baclofen Administered in Spinal Canal Resolved Severe Muscle Spasms

News

Painful muscle spasms in a patient with Friedreich’s ataxia (FA) were managed by administering baclofen in the spinal canal, a case study reports. The study was published in the journal Stereotactic and ... Read more

May 29, 2018May 29, 2018

Chronic Inflammatory State Linked to Friedreich’s Ataxia, Genetic Study Reveals

News

Friedreich’s ataxia is associated with a chronic inflammatory state, according to the genetic pattern of peripheral blood cells revealed in a research study. The UCLA study is titled “Peripheral ... Read more

May 15, 2018May 15, 2018

MDA Awards $2.6 Million in Grants to Improve Understanding of Neuromuscular Diseases

News

The Muscular Dystrophy Association (MDA) awarded 13 grants totaling $2.6 million to promote and support research projects aimed at better understanding and treating muscular dystrophies and related life-threatening diseases, including ... Read more

March 22, 2018March 22, 2018

DNA Repair Protein Could Be Key to Understanding FA Progression, Study Suggests

News

Using human cells, researchers have found that targeting the MLH3 protein involved in DNA repair can reduce the GAA repeat expansion that causes Friedreich’s ataxia. This finding adds new ... Read more

March 6, 2018March 7, 2018

Statins Could Help Reduce Friedreich’s Ataxia Patients’ Risk of Heart Disease, Study Suggests

News

Statins, a cholesterol-lowering medication, can increase the amount of a good cholesterol component that is found in low levels in Friedreich’s ataxia patients, possibly helping them avoid heart failure, ... Read more

January 18, 2018

Hypertension Therapy Shows Potential to Reverse Friedreich’s Ataxia Symptoms in Mouse Study

News

Researchers found a 50-year-old hypertension therapy can enhance the amount of frataxin protein in cells from patients with Friedreich’s ataxia and mouse models of the disease. The finding was ... Read more

January 16, 2018

Emotion Perception Seen to Be Impaired in Friedreich’s Ataxia Patients, Study Finds

News

Patients with Friedreich’s ataxia have impaired emotion recognition that may be secondary to neuropsychological impairment, according to a study published in the journal The Cerebellum. Expressing and reading emotions ... Read more

December 14, 2017

Panel of 6 microRNAs May Represent a Genetic Signature of Friedreich’s Ataxia, Study Suggests

News

Increased levels of six small RNA molecules, or microRNAs, in the blood could be a specific genetic marker for Friedreich’s ataxia features and progression, researchers have found. The study ... Read more

December 12, 2017December 12, 2017

More Powerful DNA Mapping Could Help Scientists Better Understand Friedreich’s Ataxia

News

Researchers at Tufts University have developed a new, more powerful method of analyzing DNA sequencing to better identify and understand complex genomic rearrangements (CGRs), which are involved in many ... Read more

December 5, 2017

Researchers Develop Synthetic Molecule to Bypass FXN Gene Mutation, Report Says

News

Researchers at the University of Wisconsin-Madison have developed a synthetic molecule that may help overcome the effects of the genetic defect that causes Friedreich’s ataxia. According to the study, ... Read more

November 14, 2017November 14, 2017

Early Targeting of Mitochondrial Dysfunction May Help FA Patients, Study Suggests

News

Researchers have found that asymptomatic dysfunction of mitochondrial activity in the part of the brain that regulates muscular activity, the cerebellum, may be a first step in the development ... Read more

November 7, 2017

Transplanting HSPCs Restored Mitochondria Function in FA Mice Model

News

Transplanting hematopoietic stem and progenitor cells (HSPCs) restored muscle strength and motility function in a mouse model of Friedreich’s ataxia, according to a report published in Science Translational Medicine. ... Read more

October 31, 2017

Engineered Frataxin Protein Improves Lifespan of Mice with Friedreich’s Ataxia, Study Shows

News

A manmade version of the frataxin protein that’s missing in Friedreich’s ataxia increased frataxin levels in the muscles of mice with the disease, increasing their survival, a study found. Scientists used ... Read more

October 19, 2017

CRISPR Therapeutics Receives FARA Grant to Develop Gene Editing Therapies for Friedreich’s Ataxia

News

CRISPR Therapeutics has received a grant from the Friedreich’s Ataxia Research Alliance to support its work on gene editing as a potential treatment for the disease. The company will use the Kyle ... Read more

August 3, 2017

Reata Raised $115.9M to Advance Pipeline Development, Including FA Therapy

News

Reata Pharmaceuticals sold some of its shares, generating sales of approximately $115.9 million to be used to support the clinical development of the company’s pipeline, including omaveloxolone, its lead ... Read more

July 27, 2017

Researchers Identify 2 Molecules That Boost Frataxin Levels in Friedreich’s Ataxia Animal Models

News

Two small molecules were shown to increase the mRNA and protein levels of frataxin (FXN) in animal models of Friedreich’s ataxia. According to a report published at Neuropharmacology, these compounds could have ... Read more

June 13, 2017

Multiple Sclerosis Treatment Holds Promise for Friedreich’s Ataxia Patients, Studies Show

Friedreich's Ataxia, News

Friedreich’s ataxia (FRDA) patients have less mitochondria than other people because of the mutation in the frataxin (FXN) gene that is associated with the disorder, according to two studies. ... Read more

April 11, 2017

Discovery Could Address Reduced Protein Expression Associated with Friedreich’s Ataxia

News

Friedreich’s ataxia (FRDA) stems from abnormal DNA code expansions in the Frataxin (FXN) gene that collectively reduce the expression of the FXN protein. A new study indicates that small RNA ... Read more

April 6, 2017April 7, 2017

Voyager Therapeutics’ Potential Gene Therapy Program for FA Moving Toward Pre-Clinical Stage

News

Voager Therapeutics has announced that its Friedreich’s ataxia program, VY-FXN01, is taking steps to initiate preclinical tests of its safety and effectiveness, the company expects to achieve in a ... Read more

March 30, 2017March 30, 2017

Identifying Cerebellum’s Structural Changes May Serve as Biomarker for Ataxia, Study Finds

News

Researchers at Italy’s IRCCS Santa Lucia Foundation have found that cerebellar atrophy can affect brain structures related to emotions, thinking and memory, which may in part explain ataxia symptoms. Their results suggest that ... Read more

February 7, 2017

Inflammatory Bowel Disease, Growth Hormone Deficiency More Likely in Patients With FA, Study Shows

News

Patients with Friedreich ataxia (FA) are more likely to develop inflammatory bowel disease and growth hormone deficiency than those without FA, concludes a recent study. Researchers believe that these associations, which may ... Read more

December 8, 2016

Altered Cellular Metabolism in Friedreich’s Ataxia Is Potential Therapeutic Target, Review Says

News

Recent research in Friedreich’s ataxia (FA) has revealed new possibilities for lipid metabolism as a therapeutic target to slow the progression of the disease in patients. The latest knowledge ... Read more

November 10, 2016

HFE Gene Mutation May Be Culprit in Peripheral Nerve Damage to Friedrich’s Ataxia Patients

News

An Indian population study has shown that a specific mutation in a gene involved in iron regulation, the HFE gene, is seen frequently in patients with Friedreich’s ataxia (FA), ... Read more

October 27, 2016October 27, 2016

Recognizing Abnormal Movements in Kids Important for Early Diagnosis, Treatment of Ataxia Syndromes

News

Recognizing atypical involuntary movements in childhood autosomal recessive ataxia syndromes can lead to early diagnosis and may allow for more effective treatment of the symptoms, according to a recent ... Read more

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