Journal ArticleDOI
Lessons for clinical trial design in Friedreich's ataxia.
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This article is published in Lancet Neurology.The article was published on 2021-03-23. It has received 6 citations till now. The article focuses on the topics: Ataxia.read more
Citations
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Journal ArticleDOI
Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia.
Ana Luisa de Carvalho Cardozo Hernández,Thiago Junqueira Ribeiro de Rezende,Alberto R. M. Martinez,Mariana Rabelo de Brito,Marcondes C. França +4 more
TL;DR: In this article, the authors designed a cross-sectional study to evaluate microstructural integrity in spinal cord (SC) WM tracts of Friedreich's ataxia patients using diffusion tensor imaging (DTI) with an automated analysis pipeline.
Journal ArticleDOI
Drug Repositioning in Friedreich Ataxia
TL;DR: Recent efforts aimed at the identification of a therapy for Friedreich ataxia through drug repositioning are described, and the limitation of such strategies are discussed.
Posted ContentDOI
Allele-specific Effects of Three-dimensional Genome Architecture in Hybrid Pigs
TL;DR: In this paper , an ultradeep in situ Hi-C sequencing of three representative somatic tissues (liver, skeletal muscle, and brain) from hybrid pigs generated by reciprocal crosses of phenotypically and physiologically divergent Berkshire and Tibetan pigs, uncover extensive chromatin reorganization between homologous chromosomes across multiple scales.
Journal ArticleDOI
How to Design a Therapeutic Trial in SCAs
TL;DR: In this paper , the authors reviewed the literature on both pharmacological trials and rehabilitating treatments performed in rare diseases, with the aim of gathering information on trial objectives and methodology and discuss fundamental elements to consider in future trials.
Journal ArticleDOI
Emerging Therapies in Friedreich's Ataxia: A Review
TL;DR: Drug development has approached FRDA through pathways addressing oxidative stress, mitochondrial dysfunction, frataxin protein deficiency and DNA transcriptional deficiency, paving the way for the first disease-modifying drugs for FRDA.
References
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Journal ArticleDOI
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano,Laura Montermini,María Dolores Moltó,Luigi Pianese,Mireille Cossée,F Cavalcanti,Eugenia Monros,François Rodius,Franck Duclos,Antonella Monticelli,Federico Zara,Joaquín Cañizares,Hana Koutnikova,Sanjay I. Bidichandani,Cinzia Gellera,Alexis Brice,Paul Trouillas,Giuseppe De Michele,Alessandro Filla,Rosa de Frutos,Francisco Palau,Pragna Patel,Stefano Di Donato,Jean-Louis Mandel,Sergio Cocozza,Michel Koenig,Massimo Pandolfo +26 more
TL;DR: A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
Journal ArticleDOI
Scale for the assessment and rating of ataxia: development of a new clinical scale.
T. Schmitz-Hübsch,S. Tezenas du Montcel,Laszlo Baliko,José Berciano,S Boesch,Chantal Depondt,Paola Giunti,C. Globas,Jon Infante,J-S Kang,Berry Kremer,Christian Mariotti,Béla Melegh,Massimo Pandolfo,Maryla Rakowicz,P Ribai,Rafał Rola,Ludger Schöls,Sandra Szymanski,B.P.C. van de Warrenburg,Alexandra Durr,Thomas Klockgether,Roberto Fancellu +22 more
TL;DR: The Scale for the Assessment and Rating of Ataxia is a reliable and valid measure of ataxia, making it an appropriate primary outcome measure for clinical trials.
Journal ArticleDOI
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Alexandra Durr,Mireille Cossée,Yves Agid,Victoria Campuzano,Claude Mignard,C. Penet,Jean-Louis Mandel,Alexis Brice,Michel Koenig +8 more
TL;DR: The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.
Journal ArticleDOI
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.
TL;DR: Segregation analysis and an increased consanguinity rate amongst parents of patients and first degree relatives of the patients with Friedreich's ataxia confirmed that this disorder is of autosomal recessive inheritance.
Journal ArticleDOI
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: A cross-sectional analysis of baseline data
Kathrin Reetz,Imis Dogan,Imis Dogan,Ana Sofia Costa,Manuel Dafotakis,Kathrin Fedosov,Paola Giunti,Michael H Parkinson,Mary G. Sweeney,Caterina Mariotti,Marta Panzeri,Lorenzo Nanetti,Javier Arpa,Irene Sanz-Gallego,Alexandra Durr,Perrine Charles,Sylvia Boesch,Wolfgang Nachbauer,Thomas Klopstock,Thomas Klopstock,Ivan Karin,Chantal Depondt,Jennifer Müller vom Hagen,Jennifer Müller vom Hagen,Ludger Schöls,Ludger Schöls,Ilaria Giordano,Ilaria Giordano,Thomas Klockgether,Thomas Klockgether,Katrin Bürk,Massimo Pandolfo,Jörg B. Schulz +32 more
TL;DR: The results of this cross-sectional baseline analysis of the EFACTS cohort suggest that earlier disease onset is associated with larger numbers of GAA repeats and more rapid disease progression, which has implications for the design of clinical trials in Friedreich's ataxia.