Voyager Therapeutics Announces Selection of Gene Therapy Development Candidate for Friedreich’s Ataxia in Collaboration with Neurocrine Biosciences
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2M ago
Voyager Therapeutics announced that the joint steering committee with its collaborator Neurocrine Biosciences has selected a lead development candidate in the Friedreich’s ataxia (FA) program. The candidate combines a frataxin (FXN) gene replacement payload with an intravenously administered, blood-brain barrier penetrant, novel capsid derived from Voyager’s TRACER™ capsid discovery platform. The companies expect the program to advance into first-in-human clinical trials in 2025. Read More Here     ..read more
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Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
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2M ago
Shen MM, Rummey C, Lynch DR. Most individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA expansion on one allele and a mutation on the other. The study aim was to examine phenotypic variation among compound heterozygotes. Data on FXN mutations were obtained from the Friedreich Ataxia Clinical Outcome Measures Study (FA-COMS). The authors compared clinical features in a single-site FA-COMS cohort of 51 compound heterozygous and ..read more
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Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons
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2M ago
Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S. The authors have previously demonstrated that single infusion of wild-type hematopoietic stem and progenitor cells (HSPCs) resulted in prevention of neurologic and cardiac complications of FRDA in YG8R mice, and rescue was mediated by FXN transfer from tissue engrafted, HSPC-derived microglia/macrophages to diseased neurons/myocytes. For a future clinical translation, an autologous stem cell transplantation approach was developed ..read more
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Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
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2M ago
Lynch DR, Subramony S, Lin KY, Mathews K, Perlman S, Yoon G, Rummey C. The authors examined the clinical features of Friedreich ataxia (FRDA) patients who present first with cardiac disease in order to understand the earliest features of the diagnostic journey in FRDA. They identified a group of subjects in the FACOMS natural history study whose first identified clinical feature was cardiac. Only 0.5% of the total cohort belonged to this group, which was younger on average at the time of presentation. Their cardiac symptoms ranged from asymptomatic features to heart failure with severe systoli ..read more
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Nerve ultrasound in Friedreich's Ataxia: enlarged nerves as a biomarker of disease severity
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2M ago
Di Pietro G, Cioffi E, Falco P, Galosi E, De Stefano G, Di Stefano G, Leone C, Martines V, Perotti S, Casali C, Truini A. This study examines high-resolution nerve ultrasound in FRDA patients, seeking correlations with established clinical markers of disease severity. Ten patients with Friedreich's Ataxia underwent a comprehensive clinical assessment with established scales (SARA, FARS, mFARS, INCAT, ADL 0-36, IADL). Additionally, they underwent nerve conduction studies and high-resolution nerve ultrasound. Quantitative evaluation of nerve cross-sectional area, conducted at 24 nerve sites usin ..read more
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Genetic testing for non-parkinsonian movement disorders: Navigating the diagnostic maze
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2M ago
Shambetova C, Klein C. This paper aims to provide a neurologist's perspective on approaching patients with hereditary hyperkinetic disorders with a focus on select forms of dystonia, paroxysmal dyskinesia, chorea, and ataxia. Age at onset, initial symptoms, and their severity, as well as the presence of any concurrent neurological and non-neurological features, contribute to the individual clinical profiles of hereditary non-parkinsonian movement disorders, aiding in the selection of appropriate genetic testing strategies. There are also more specific diagnostic clues that may facilitate the d ..read more
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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
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3M ago
Larimar Therapeutics, Inc. announced positive top-line data and successful completion of its four-week, placebo-controlled Phase 2 dose exploration study of nomlabofusp (CTI-1601) in participants with Friedreich’s ataxia. Nomlabofusp was generally well tolerated and demonstrated dose dependent increases in frataxin levels in all evaluated tissues (skin and buccal cells) after daily dosing of 14 days followed by every other day dosing until day 28 in the 25 mg and 50 mg cohorts. Read More Here     ..read more
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Tissue Iron in Friedreich Ataxia
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3M ago
Heart, dentate nucleus, and dorsal root ganglia (DRG) are targets of tissue damage in Friedreich ataxia (FA). This report summarizes the histology and histopathology of iron in the main tissues affected by FA. None of the affected anatomical sites reveals an elevation of total iron levels. In the myocardium, a small percentage of fibers shows iron-reactive granular inclusions. The accumulation of larger iron aggregates and fiber invasion cause necrosis and damage to the contractile apparatus. In the dentate nucleus, the principal FA-caused tissue injury is neuronal atrophy and grumose reaction ..read more
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Protective effect of FXN overexpression on ferroptosis in L-Glu-induced SH-SY5Y cells
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3M ago
Alzheimer's disease (AD) is a complex, multifactorial neurodegenerative disease. However, the pathogenesis remains unclear. Recently, an increasing number of studies have demonstrated that ferroptosis is a new type of iron-dependent programmed cell death, contributes to the death of nerve cells in AD. By controlling iron homeostasis and mitochondrial function, the particular protein called frataxin (FXN), which is situated in the mitochondrial matrix, is a critical regulator of ferroptosis disease.. Here, the authors identified a novel underlying mechanism through which ferroptosis mediated by ..read more
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Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerations
FARA - Scientific News
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3M ago
Omavaloxolone, an NRF2 activator, recently became the first drug approved specifically for the treatment of Friedreich ataxia (FRDA). This landmark achievement provides a background for a review of the detailed data leading to the approval. The authors review the data from the 4 major articles on FRDA in the context of the authors' considerable (>1000 patients) experience in treating individuals with FRDA. The data is presented in the context not only of its scientific meaning but also in the practical context of therapy in FRDA. Omaveloxolone provides a significant advance in the treatment ..read more
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