Ataxia de friedreich, lucha por la supervivencia

Beatriz Miguel Palacios. Diplomada en Fisioterapia. Hospital Universitario Miguel Servet. Zaragoza, Nuria Bedoya Chocán. Celadora. Hospital Tres Mares. Reinosa, Cantabria., Nuria Sánchez Garrigós. Diplomada en Enfermería. Hospital General de Valdepeñas. Ciudad Real., María Teresa Bartolomé Bueno. FP2 Administrativo. Clínica del Pilar. Zaragoza., Noelia Loren Valles. Técnico en Cuidados Auxiliares de Enfermería. Hospital Miguel Servet. Zaragoza., José Antonio Ortín Clavería. Grado en Fisioterapia. Hospital Universitario Miguel Servet. Zaragoza.; REVISTA SANITARIA DE INVESTIGACIÓN, 5 agosto 2022, ISSN: 2660-7085 

PALABRAS CLAVE: Ataxias hereditarias, fisioterapia, ataxia cerebelosa, marcha, enfermedades cardiovasculares.

Lexeo to start phase I/II clinical trial for patients with FA cardiomyopathy.

5 ago 2022

Importance of an echocardiogram in the evaluation of ataxia

Stokreef S, Lemos M, Quintas S.; BMJ Case Reports CP 2022;15:e248691. doi:10.1136/bcr-2021-248691

We present the case of a boy in his middle childhood with gait ataxia and loss of reflexes with a 1-year onset. He had a background of an autism spectrum disorder but was otherwise healthy. A paediatric cardiology assessment was requested to investigate possible cardiac involvement associated to his neurological symptoms. Even though he had no cardiac symptoms and a normal electrocardiography, the echocardiogram revealed severe asymmetric left ventricle hypertrophy consistent with hypertrophic cardiomyopathy. This prompted genetic testing and the diagnosis of Friedreich’s ataxia was confirmed.

Unleashing the potential of AAV gene therapy

Biopharma Dealmakers (Biopharm Deal). 18/7/2022.

Voyager Therapeutics is unlocking the potential of adeno-associated virus gene therapy to treat a range of neurological disorders, broadening the therapeutic window while ensuring efficacy and safety. The company has already secured capsid option and license agreements with Novartis and Pfizer for target-specific use with CNS and cardiac muscle targets. Voyager also has an ongoing collaboration with Neurocrine Biosciences on a preclinical Friedreich’s ataxia (FA) program and two undisclosed discovery programs in which the company’s novel capsids may be deployed.

SCouT: Synthetic Counterfactuals via Spatiotemporal Transformers for Actionable Healthcare

Bhishma Dedhia, Roshini Balasubramanian, Niraj K. Jha; arXiv:2207.04208v1 [cs.AI] for this version); doi:10.48550/arXiv.2207.04208 (Computer Science > Artificial Intelligence)

We also generate actionable healthcare insights at the population and patient levels by simulating a state-wide public health policy to evaluate its effectiveness, an in silico trial for asthma medications to support randomized controlled trials, and a medical intervention for patients with Friedreich's ataxia to improve clinical decision-making and promote personalized therapy.

We simulate synthetic counterfactuals under a Calcitriol supplement intervention for a Friedreich’s ataxia (FA) patient.

Cardiovascular Research in Friedreich Ataxia

R. Mark Payne; J Am Coll Cardiol Basic Trans Science. null2022, 0 (0); doi:10.1016/j.jacbts.2022.04.005

Patients can develop a cardiomyopathy associated with heart failure and death. • A single gene defect decreases expression of FXN and may be amenable to therapy. • A need exists for greater basic and clinical investigations to advance therapies.

Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation

Imbault, Virginie; Dionisi, Chiara; Naeije, Gilles; Communi, David; Pandolfo, Massimo (2022). Frontiers. Collection. doi:10.3389/fnins.2022.885313 

This study supports the hypothesis that the quantitative analysis CSF proteins may provide robust biomarkers for clinical trials as well as shed light on pathogenic mechanisms. Interestingly, DEPs in FA patients CSF point to neurodegeneration and neuroinflammation processes that may respond to treatment.

EE146 Cost and Resource Utilization in Friedreich Ataxia: A Systematic Literature Review

R Zhang, K Buesch; Value in Health, Volume 25, Issue 7, Supplement, 2022, Page S363, doi:10.1016/j.jval.2022.04.396. 

The search retrieved 57 studies, of which 5 fulfilled the eligibility criteria. Among these, 2 reported resource utilization, and 5 reported cost data. No economic evaluation was identified. Neurologists and cardiologists were the most frequently visited physicians, seen by 61-86% and 57-86% of FA patients, respectively. About 23-46% of FA patients were hospitalized for an average of 5-9 days per year. Mean annual direct medical and non-medical cost per patient ranged from £8.893 in the UK to...

CO49 Clinical Efficacy and Safety of Therapeutic Interventions Used in Friedreich Ataxia: A Systematic Review

P Jain, L Badgujar, JA Spoorendonk, K Buesch; Value in Health, Volume 25, Issue 7, Supplement, 2022, Pages S312-S313, doi:10.1016/j.jval.2022.04.147. 

 In total, 32 relevant publications were identified, of which 24 were randomized controlled trials. These publications investigated idebenone (n=11), recombinant erythropoietin (n=6), omaveloxolone (n=3), amantadine hydrochloride (n=2), and A0001, CoQ10, creatine, deferiprone, interferon-γ-1b, L-cartinine levorotatory form of 5-hydroxytryptophan, luvadaxistat, resveratrol, RT001, vatiquinone (all n=1). Age of study participants ranged from 8 to 73 years and disease duration ranged from 4 to 19.

Natural History of Friedreich's Ataxia: Heterogeneity of Neurological Progression and Consequences for Clinical Trial Design

Christian Rummey, Louise A Corben, Martin Delatycki, George Wilmot, Sub H Subramony, Manuela Corti, Khalaf Bushara, Antoine Duquette, Christopher Gomez, J Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine Mathews, Theresa Zesiewicz, Susan Perlman, David R Lynch; Neurology Jul 2022, 10.1212/WNL.0000000000200913; DOI: 10.1212/WNL.0000000000200913

Understanding of the diversity within Friedreich's ataxia populations and their patterns of functional decline provides an essential foundation for future clinical trial design including patient selection and facilitates the interpretation of the clinical relevance of progression detected in Friedreich's ataxia.