219P Enhancing clinical trial eligibility criteria in FSHD: validating whole-body MRI as a key outcome measure

IF 2.7 4区医学 Q2 CLINICAL NEUROLOGY

Neuromuscular Disorders Pub Date : 2024-10-01 DOI:10.1016/j.nmd.2024.07.070

P. Widholm , M. Karlsson , J. Pini , A. Puma , L. Villa , M. Cavali , A. Ezaru , G. Bassez , B. Marty , T. Evangelista , R. Thomas , L. Danjoux , C. Tard , S. Sacconi

{"title":"219P Enhancing clinical trial eligibility criteria in FSHD: validating whole-body MRI as a key outcome measure","authors":"P. Widholm , M. Karlsson , J. Pini , A. Puma , L. Villa , M. Cavali , A. Ezaru , G. Bassez , B. Marty , T. Evangelista , R. Thomas , L. Danjoux , C. Tard , S. Sacconi","doi":"10.1016/j.nmd.2024.07.070","DOIUrl":null,"url":null,"abstract":"<div><div>The heterogeneous disease progression in FSHD makes assessing treatment response in clinical trials challenging. Quantitative whole-body MRI has been recognized as a promising technique to address these challenges, but there are limited data from its use in natural history studies. The overall aim of the CTRN FSHD France study (NCT03458832) is to validate new outcome measures, define minimal clinically important change, and establish FSHD characteristics useful for determining clinical trial eligibility criteria. Up to 70 ambulatory FSHD1 patients with symptomatic limb weakness aged 18-75 will be included and followed for 24 months. In addition to whole-body MRI, the study will also assess muscle strength and function, as well as several patient-reported outcome measures. 68 patients successfully completed the baseline analysis, including MRI. The median (min, max) age was 50 (21, 75) years, with CSS 6 (1, 9) and 6 (2, 10) D4Z4-repeats. The muscle fat fraction (MFF) was 7% (1, 91), 21% (2, 96), 6% (1, 87), and 31% (2, 100) in the arms, legs, rotator cuffs, and torso, respectively. We have successfully implemented quantitative whole-body MRI in a natural history study of a FSHD cohort with baseline characteristics resembling what can be expected in clinical trials. Initial analysis of disease progression after 12 months is expected to be available this fall.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"43 ","pages":"Article 104441.61"},"PeriodicalIF":2.7000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuromuscular Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960896624002347","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

The heterogeneous disease progression in FSHD makes assessing treatment response in clinical trials challenging. Quantitative whole-body MRI has been recognized as a promising technique to address these challenges, but there are limited data from its use in natural history studies. The overall aim of the CTRN FSHD France study (NCT03458832) is to validate new outcome measures, define minimal clinically important change, and establish FSHD characteristics useful for determining clinical trial eligibility criteria. Up to 70 ambulatory FSHD1 patients with symptomatic limb weakness aged 18-75 will be included and followed for 24 months. In addition to whole-body MRI, the study will also assess muscle strength and function, as well as several patient-reported outcome measures. 68 patients successfully completed the baseline analysis, including MRI. The median (min, max) age was 50 (21, 75) years, with CSS 6 (1, 9) and 6 (2, 10) D4Z4-repeats. The muscle fat fraction (MFF) was 7% (1, 91), 21% (2, 96), 6% (1, 87), and 31% (2, 100) in the arms, legs, rotator cuffs, and torso, respectively. We have successfully implemented quantitative whole-body MRI in a natural history study of a FSHD cohort with baseline characteristics resembling what can be expected in clinical trials. Initial analysis of disease progression after 12 months is expected to be available this fall.

查看原文本刊更多论文

219P 强化 FSHD 临床试验资格标准：验证全身 MRI 作为关键结果测量指标的有效性

前列腺增生症的疾病进展各不相同，因此在临床试验中评估治疗反应具有挑战性。定量全身核磁共振成像已被认为是应对这些挑战的一项有前途的技术，但将其用于自然史研究的数据却很有限。法国CTRN前列腺增生症研究（NCT03458832）的总体目标是验证新的结果测量指标、定义最小临床重要变化并确定有助于确定临床试验资格标准的前列腺增生症特征。该研究将纳入多达 70 名年龄在 18-75 岁之间、患有症状性肢体无力的非卧床 FSHD1 患者，并对其进行为期 24 个月的随访。除了全身核磁共振成像外，该研究还将评估肌肉力量和功能，以及几项患者报告的结果指标。68名患者成功完成了包括核磁共振成像在内的基线分析。中位（最小，最大）年龄为 50（21，75）岁，CSS 为 6（1，9）次，D4Z4 为 6（2，10）次。手臂、腿部、肩袖和躯干的肌肉脂肪率（MFF）分别为 7% (1, 91)、21% (2, 96)、6% (1, 87) 和 31% (2, 100)。我们成功地在一项FSHD队列自然史研究中采用了定量全身磁共振成像技术，该技术的基线特征与临床试验中的预期特征相似。预计今年秋天将对 12 个月后的疾病进展情况进行初步分析。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Neuromuscular Disorders 医学-临床神经学

CiteScore

4.60

自引率

3.60%

发文量

543

审稿时长

53 days

期刊介绍： This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies). The Editors welcome original articles from all areas of the field: • Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery). • Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics. • Studies of animal models relevant to the human diseases. The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.