Friedreich Ataxia and close related scientific news. Topics related to rare diseases.
Thursday, June 6, 2024
Friedreich’s Ataxia and Cesarean Delivery: A Case Report of Epidural Anesthesia With Ropivacaine
Tuesday, June 4, 2024
Microfluidic Formulation of Diazoxide-Loaded Solid Lipid Nanoparticles as a Novel Approach for Friedreich's Ataxia Treatment
Monday, June 3, 2024
The Mechanism of Folding of Human Frataxin in Comparison to the Yeast Homologue - Broad Energy Barriers and the General Properties of the Transition State
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
Mitochondrial calcium regulation of cardiac metabolism in health and disease
Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics
Mapping Novel Frataxin Mitochondrial Networks Through Protein- Protein Interactions
Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview
Sunday, June 2, 2024
CRPD frontiers in movement disorders Therapeutics: From evidence to treatment and applications: Addressing Patients' Needs in the Management of the Ataxias
Requirements for the biogenesis of [2Fe-2S] proteins in the human and yeast cytosol
Friday, May 31, 2024
Insights into the effects of Friedreich ataxia on the left ventricle using T1 mapping and late gadolinium enhancement
Thursday, May 30, 2024
Larimar Therapeutics Selected by FDA to Participate in START Pilot Program for Nomlabofusp in Friedreich’s Ataxia
Monday, May 27, 2024
An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich’s Ataxia
Sunday, May 26, 2024
Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study
Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure
Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich’s ataxia
Glial overexpression of Tspo extends lifespan and protects against frataxin deficiency in Drosophila
Characterizing the molecular basis of Friedreich's ataxia using molecular dynamics
Thursday, May 23, 2024
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease
Tuesday, May 21, 2024
Larimar Therapeutics Announces FDA has Removed Partial Clinical Hold for Nomlabofusp Program in Friedreich’s Ataxia
Thursday, May 16, 2024
Long non-coding RNA TUG1 is down-regulated in Friedreich’s ataxia
Characterization of clinical serum cardiac biomarker levels in individuals with Friedreich ataxia
Sunday, May 12, 2024
Deciphering the ferroptosis pathways in dorsal root ganglia of Friedreich ataxia models. The role of LKB1/AMPK, KEAP1, and GSK3beta in the impairment of the NRF2 response
Saturday, May 11, 2024
1. WO2024097772 - COMPOSITIONS AND METHODS FOR TREATMENT OF FRIEDREICH'S ATAXIA
Friday, May 10, 2024
Ferrostatin-1 specifically targets mitochondrial iron-sulfur clusters and aconitase to improve cardiac function in Sirtuin 3 cardiomyocyte knockout mice
Larimar Therapeutics Reports First Quarter 2024 Operating and Financial Results
Thursday, May 9, 2024
Stealth BioTherapeutics’ SBT-589 Shows Cardioprotective Effects in Preclinical Models of Friedreich Ataxia
Design Therapeutics Announces First Quarter 2024 Financial Results and Highlights Upcoming Program Milestones
Friday, May 3, 2024
Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann–Pick Type C
Thursday, May 2, 2024
Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients
Genetic Determined Iron Starvation Signature in Friedreich's Ataxia
One-to-one Benefit provided by Antioxidants to cultured skin Fibroblasts from Friedreich Ataxia patients
Astellas' Friedreich’s ataxia gene therapy cleared for clinical study after earlier version stumbled
Alterity Therapeutics Presents New Data Demonstrating Potential of ATH434 to Treat Rare Neurodegenerative Disease Friedreich’s Ataxia
Opinion: Larimar Could Compete with Biogen in Friedreich’s Ataxia
Inherited metabolic disorders in Cyprus
Wednesday, May 1, 2024
Mitochondria function in cytoplasmic FeS protein biogenesis
Tuesday, April 30, 2024
Frataxin deficiency in proprioceptive neurons is causal to inflammatory and glial responses in dorsal root ganglia
Deciphering the mechanisms of gene silencing induced by triplet-repeat expansions
Frataxin deficiency shifts metabolism to promote reactive microglia via glucose catabolism
A genome-wide spectrum of tandem repeat expansions in 338,963 humans
A clinical-stage Nrf2 activator suppresses osteoclast differentiation via the iron-ornithine axis
Emerging therapies for childhood-onset movement disorders
Perioperative management and outcomes for posterior spinal fusion in patients with Friedreich ataxia: A single-center, retrospective study
Wednesday, April 24, 2024
Localized Changes in Dentate Nucleus Shape and Magnetic Susceptibility in Friedreich Ataxia
Tuesday, April 23, 2024
Vesigen to Present New Preclinical Data on Engineered ARMMs Technology at 2024 ASGCT Annual Meeting
Lexeo Enters License Agreement for Friedreich Ataxia Treatment
Recent Advances in the Treatment Strategies of Friedreich’s Ataxia: A Review of Potential Drug Candidates and their Underlying Mechanisms
The Role of Verbal Fluency in the Cerebellar Cognitive Affective Syndrome Scale in Friedreich Ataxia
Wednesday, April 17, 2024
Muscular Dystrophy Association and Friedreich’s Ataxia Research Alliance Announce Collaborative Research Grant Using Novel Gene Editing Technology to Address Root Cause of Friedreich’s Ataxia Disease
Tuesday, April 16, 2024
LEXEO THERAPEUTICS GRANTED FDA FAST TRACK DESIGNATION FOR LX2006, AN AAV-BASED GENE THERAPY CANDIDATE FOR THE TREATMENT OF FRIEDREICH’S ATAXIA CARDIOMYOPATHY
Pharmacotherapeutic strategies for Friedreich Ataxia: a review of the available data
Thursday, April 11, 2024
Expression and processing of mature human frataxin after gene therapy in mice
Tuesday, April 9, 2024
Chaperone function in Fe–S protein biogenesis: Three possible scenarios
Friday, April 5, 2024
AAV gene therapy to treat Friedreich’s ataxia cardiomyopathy
NeuroVoices: Francesco Saccà, MD, PhD, on Crossing Over Dimethyl Fumarate in Friedriech Ataxia
Approval of omaveloxolone for Friedreich ataxia
Tuesday, April 2, 2024
Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study
Friday, March 29, 2024
Therapeutic Potential of Dimethyl Fumarate to Treat Friedreich Ataxia: Francesco Saccà, MD, PhD
Monday, March 25, 2024
Novel approach for evaluation of mitochondrial substrate utilization in fibroblasts from patients with Friedreich’s ataxia
Using synthetic genome readers/regulators to interrogate chromatin processes: A brief review
Unique combinations of ultrasound and electrophysiological findings distinguish Friedreich’s ataxia from other inherited ataxias
Larimar Triumphs: Significant Strides Made on the Road to Treating Friedreich’s Ataxia
Design Therapeutics, Inc. (NASDAQ:DSGN) Q4 2023 Earnings Call Transcript
Wednesday, March 20, 2024
Stealth BioTherapeutics Presents Data of Novel Compound, SBT-589, in Friedreich's Ataxia Cardiac Models at the Wellcome Trust Mitochondrial Medicine Conference
Tuesday, March 19, 2024
Design Therapeutics Outlines Progress Across GeneTAC™ Platform and Announces Fourth Quarter and Full Year 2023 Financial Results
Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity
Monday, March 18, 2024
P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*
Thursday, March 14, 2024
Larimar Therapeutics Reports Fourth Quarter and Full Year 2023 Operating and Financial Results and Provides Update on Nomlabofusp Development
Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia
Larimar Therapeutics Announces the Dosing of the First Patient in Long-term Open Label Extension Study for Nomlabofusp in Patients with Friedreich’s Ataxia
Lexeo Therapeutics Reports Fourth Quarter and Full Year 2023 Financial Results and Operational Highlights
Wednesday, March 13, 2024
Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)
Regulatory Pathway Widening for Cardiac Gene Therapy Hopefuls
Wednesday, March 6, 2024
Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman
Saturday, March 2, 2024
Frataxin Traps Low Abundance Quaternary Structure to Stimulate Human Fe-S Cluster Biosynthesis
Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
Friday, March 1, 2024
Prime Medicine Reports Full Year 2023 Financial Results and Provides Business Updat
After pair of failures, PTC finds a path through FDA jungle for Friedreich ataxia med
PTC Therapeutics Provides Corporate Update and Reports Fourth Quarter and Full Year 2023 Financial Results
Monday, February 26, 2024
Voyager Therapeutics Announces Selection of Gene Therapy Development Candidate for Friedreich’s Ataxia in Collaboration with Neurocrine Biosciences
Sunday, February 25, 2024
Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
Thursday, February 22, 2024
Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene
Wednesday, February 21, 2024
Union Register of medicinal products for human use: (2024)975 of 09 Feb 2024 Skyclarys
https://ec.europa.eu/health/documents/community-register/2024/20240209161576/dec_161576_es.pdf
https://ec.europa.eu/health/documents/community-register/2024/20240209161576/dec_161576_en.pdf
https://ec.europa.eu/health/documents/community-register/2024/20240209161576/dec_161576_fr.pdf
FICHA TÉCNICA / SUMMARI OF PRODUCT / RÉSUMÉ
https://ec.europa.eu/health/documents/community-register/2024/20240209161576/anx_161576_es.pdf
https://ec.europa.eu/health/documents/community-register/2024/20240209161576/anx_161576_en.pdf
https://ec.europa.eu/health/documents/community-register/2024/20240209161576/anx_161576_fr.pdf
Thursday, February 15, 2024
Larimar Therapeutics Reports Positive Top-line Data from Phase 2 Dose Exploration Study from 25 mg and 50 mg Cohorts of Nomlabofusp in Patients with Friedreich’s Ataxia
Monday, February 12, 2024
Biogen Received European Commission Approval for SKYCLARYS® (omaveloxolone), the First Therapy to Treat Friedreich’s Ataxia
Friday, February 9, 2024
Real-world evidence for coverage determination of treatments for rare diseases
Tuesday, February 6, 2024
Searching for Frataxin Function: Exploring the Analogy with Nqo15, the Frataxin-like Protein of Respiratory Complex I from Thermus thermophilus
Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI-1601) in Friedreich's ataxia
Monday, February 5, 2024
Absence of functional deficits in rats following systemic administration of an AAV9 vector despite moderate peripheral nerve and dorsal root ganglia findings: a clinically silent peripheral neuropathy
Sunday, February 4, 2024
A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models
Nerve Ultrasound in Friedreich’s Ataxia: enlarged nerves as a Biomarker of disease severity
Tuesday, January 30, 2024
Protective effect of FXN overexpression on ferroptosis in L-Glu-induced SH-SY5Y cells
Friday, January 26, 2024
Anti-gene oligonucleotides targeting Friedreichs ataxia expanded GAA:TTC repeats increase Frataxin expression
Omaveloxolone for the treatment of Friedreich Ataxia: clinical trial results and practical considerations
Emerging antioxidant therapies in Friedreich's ataxia
Thursday, January 25, 2024
Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia
Tuesday, January 23, 2024
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of friedreich’s ataxia
Friday, January 19, 2024
METTL17 is an Fe-S cluster checkpoint for mitochondrial translation
Wednesday, January 17, 2024
Gene editing improves Endoplasmic reticulum-mitochondrial contacts and Unfolded Protein Response in Friedreich's Ataxia iPSC-derived neurons
Saturday, January 13, 2024
Iron imbalance in neurodegeneration
Friday, January 12, 2024
Evaluating the therapeutic efficacy of SKYCLARYS: a promising FDA-approved drug for Friedreich ataxia treatment
Ahmed, Usaid MBBSa; Afaq, Laiba MBBSa; Muhammad, Aqeel MBBSa; Riaz, Rumaisa MBBSa; Akilimali, Aymar MDb. Evaluating the therapeutic efficacy of SKYCLARYS: a promising FDA-approved drug for Friedreich ataxia treatment. International Journal of Surgery: Global Health 7(1):e0394, January 2024. | DOI: 10.1097/GH9.0000000000000394
Omaveloxone’s activation of the Nrf2 pathway, responsible for combating oxidative stress, has shown significant promise, especially in enhancing neurological function. Continuous research and the accumulation of clinical knowledge will play a crucial role in fine-tuning its best practices and investigating potential synergies with other treatments, all with the goal of further advancing the outcomes for those living with FRDA.