دورية أكاديمية
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
| العنوان: | Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study |
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| المؤلفون: | Samantha LoRusso, Nicholas E. Johnson, Michael P. McDermott, Katy Eichinger, Russell J. Butterfield, Elena Carraro, Kiley Higgs, Leann Lewis, Karlien Mul, Sabrina Sacconi, Valeria A. Sansone, Perry Shieh, Baziel van Engelen, Kathryn Wagner, Leo Wang, Jeffrey M. Statland, Rabi Tawil |
| المصدر: | BMC Neurology, Vol 19, Iss 1, Pp 1-13 (2019) |
| بيانات النشر: | BMC |
| سنة النشر: | 2019 |
| المجموعة: | Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: | Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Outcome measures, Clinical trial, Functional testing, Electrical impedance Myography, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Background Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly targeted drugs move from preclinical testing into human trials, it is essential that we validate clinical trial tools and methodology to facilitate the drug development process. Methods/design The primary goal of this study is to hasten drug development for FSHD by validating two novel clinical outcome assessments (COAs) and refining clinical trial strategies. We will perform an 18-month longitudinal study in 220 genetically confirmed and clinically affected participants using our FSHD Clinical Trial Research Network, comprised of 8 sites in the United States, and 3 collaborating sites in Europe. Visits occur at baseline and months 3, 12, and 18. At each visit we will collect: 1) a novel FSHD functional composite COA made up of 18 evaluator-administered motor tasks in the domains of shoulder/arm, hand, core/abdominal, leg, and balance function; and 2) electrical impedance myography as a novel muscle quality biomarker (US sites). Other COAs include 1) Domain 1 of the Motor Function Measure; 2) Reachable workspace; 3) orofacial strength using the Iowa Oral Performance Instrument; 4) lean muscle mass using dual-energy X-ray absorptiometry (DEXA); 5) strength as measured by quantitative myometry and manual muscle testing; and 6) the FSHD Health Index and other patient-reported outcomes. Plasma, DNA, RNA, and serum will be collected for future biomarker studies. We will use an industry standard multi-site training plan. We will evaluate the test-retest reliability, validity, and sensitivity to disease progression, and minimal clinically important changes of our new COAs. We will assess associations between demographic and genetic factors and the rate of disease progression to inform refinement of eligibility criteria for future clinical trials. Discussion To the best of our knowledge, this ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1471-2377 |
| العلاقة: | http://link.springer.com/article/10.1186/s12883-019-1452-xTest; https://doaj.org/toc/1471-2377Test; https://doaj.org/article/9f896a44cef44c188a88370316d2d5e1Test |
| DOI: | 10.1186/s12883-019-1452-x |
| الإتاحة: | https://doi.org/10.1186/s12883-019-1452-xTest https://doaj.org/article/9f896a44cef44c188a88370316d2d5e1Test |
| رقم الانضمام: | edsbas.9D5F7A16 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 14712377 |
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| DOI: | 10.1186/s12883-019-1452-x |