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000157803 005__ 20240617143833.0
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000157803 0247_ $$2doi$$a10.1016/S1474-4422(21)00027-2
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000157803 037__ $$aDZNE-2021-01260
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000157803 1001_ $$aReetz, Kathrin$$b0
000157803 245__ $$aProgression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study
000157803 260__ $$aLondon$$bLancet Publ. Group$$c2021
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000157803 520__ $$aBackground: The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential progression rates based on longitudinal 4-year data to inform upcoming clinical trials in Friedreich's ataxia.Methods: EFACTS is a prospective, observational cohort study based on an ongoing and open-ended registry. Patients with genetically confirmed Friedreich's ataxia were seen annually at 11 clinical centres in seven European countries (Austria, Belgium, France, Germany, Italy, Spain, and the UK). Data from baseline to 4-year follow-up were included in the current analysis. Our primary endpoints were the Scale for the Assessment and Rating of Ataxia (SARA) and the activities of daily living (ADL). Linear mixed-effect models were used to analyse annual disease progression for the entire cohort and subgroups defined by age of onset and ambulatory abilities. Power calculations were done for potential trial designs. This study is registered with ClinicalTrials.gov, NCT02069509.Findings: Between Sept 15, 2010, and Nov 20, 2018, of 914 individuals assessed for eligibility, 602 patients were included. Of these, 552 (92%) patients contributed data with at least one follow-up visit. Annual progression rate for SARA was 0·82 points (SE 0·05) in the overall cohort, and higher in patients who were ambulatory (1·12 [0·07]) than non-ambulatory (0·50 [0·07]). ADL worsened by 0·93 (SE 0·05) points per year in the entire cohort, with similar progression rates in patients who were ambulatory (0·94 [0·07]) and non-ambulatory (0·91 [0·08]). Although both SARA and ADL showed slightly greater worsening in patients with typical onset (symptom onset at ≤24 years) than those with late onset (symptom onset ≥25 years), differences in progression slopes were not significant. For a 2-year parallel-group trial, 230 (115 per group) patients would be required to detect a 50% reduction in SARA progression at 80% power: 118 (59 per group) if only individuals who are ambulatory are included. With ADL as the primary outcome, 190 (95 per group) patients with Friedreich's ataxia would be needed, and fewer patients would be required if only individuals with early-onset are included.Interpretation: Our findings for stage-dependent progression rates have important implications for clinicians and researchers, as they provide reliable outcome measures to monitor disease progression, and enable tailored sample size calculation to guide upcoming clinical trial designs in Friedreich's ataxia.
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000157803 650_2 $$2MeSH$$aActivities of Daily Living
000157803 650_2 $$2MeSH$$aAdult
000157803 650_2 $$2MeSH$$aCohort Studies
000157803 650_2 $$2MeSH$$aDisease Progression
000157803 650_2 $$2MeSH$$aEurope
000157803 650_2 $$2MeSH$$aFemale
000157803 650_2 $$2MeSH$$aFriedreich Ataxia: complications
000157803 650_2 $$2MeSH$$aFriedreich Ataxia: pathology
000157803 650_2 $$2MeSH$$aFriedreich Ataxia: physiopathology
000157803 650_2 $$2MeSH$$aHumans
000157803 650_2 $$2MeSH$$aMale
000157803 650_2 $$2MeSH$$aMiddle Aged
000157803 650_2 $$2MeSH$$aMobility Limitation
000157803 650_2 $$2MeSH$$aRegistries
000157803 650_2 $$2MeSH$$aTime Factors
000157803 650_2 $$2MeSH$$aYoung Adult
000157803 7001_ $$aDogan, Imis$$b1
000157803 7001_ $$aHilgers, Ralf-Dieter$$b2
000157803 7001_ $$aGiunti, Paola$$b3
000157803 7001_ $$aParkinson, Michael H$$b4
000157803 7001_ $$aMariotti, Caterina$$b5
000157803 7001_ $$aNanetti, Lorenzo$$b6
000157803 7001_ $$0P:(DE-2719)9000429$$aDürr, Alexandra$$b7$$udzne
000157803 7001_ $$aEwenczyk, Claire$$b8
000157803 7001_ $$aBoesch, Sylvia$$b9
000157803 7001_ $$aNachbauer, Wolfgang$$b10
000157803 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b11$$udzne
000157803 7001_ $$0P:(DE-2719)2812141$$aStendel, Claudia$$b12$$udzne
000157803 7001_ $$aRodríguez de Rivera Garrido, Francisco Javier$$b13
000157803 7001_ $$aRummey, Christian$$b14
000157803 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b15$$udzne
000157803 7001_ $$0P:(DE-2719)2813263$$aHayer, Stefanie$$b16$$udzne
000157803 7001_ $$0P:(DE-2719)2810314$$aKlockgether, Thomas$$b17$$udzne
000157803 7001_ $$0P:(DE-2719)2811662$$aGiordano, Ilaria$$b18$$udzne
000157803 7001_ $$aDidszun, Claire$$b19
000157803 7001_ $$aRai, Myriam$$b20
000157803 7001_ $$aPandolfo, Massimo$$b21
000157803 7001_ $$aSchulz, Jörg B$$b22
000157803 7001_ $$aLabrum, Robyn$$b23
000157803 7001_ $$aThomas-Black, Gilbert$$b24
000157803 7001_ $$aManso, Katarina$$b25
000157803 7001_ $$aSolanky, Nita$$b26
000157803 7001_ $$aGellera, Cinzia$$b27
000157803 7001_ $$aMongelli, Alessia$$b28
000157803 7001_ $$aCastaldo, Anna$$b29
000157803 7001_ $$aFichera, Mario$$b30
000157803 7001_ $$aPalau, Francesc$$b31
000157803 7001_ $$aO'Callaghan, Mar$$b32
000157803 7001_ $$aBiet, Marie$$b33
000157803 7001_ $$aMonin, Marie Lorraine$$b34
000157803 7001_ $$aEigentler, Andreas$$b35
000157803 7001_ $$aIndelicato, Elisabetta$$b36
000157803 7001_ $$aAmprosi, Matthias$$b37
000157803 7001_ $$0P:(DE-2719)9001446$$aRadelfahr, Florentine$$b38$$udzne
000157803 7001_ $$aBischoff, Almut T.$$b39
000157803 7001_ $$aHoltbernd, Florian$$b40
000157803 7001_ $$aBrcina, Nikolina$$b41
000157803 7001_ $$aHohenfeld, Christian$$b42
000157803 7001_ $$aKoutsis, Georgios$$b43
000157803 7001_ $$aBreza, Marianthi$$b44
000157803 7001_ $$aBertini, Enrico$$b45
000157803 7001_ $$aVasco, Gessica$$b46
000157803 773__ $$0PERI:(DE-600)2079704-7$$a10.1016/S1474-4422(21)00027-2$$gVol. 20, no. 5, p. 362 - 372$$n5$$p362 - 372$$tThe lancet <London> / Neurology$$v20$$x1474-4422$$y2021
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