Clinical Trial Readiness Network FSHD France: Prospective 18 Months MRI Study (ReSOLVE_France)
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|ClinicalTrials.gov Identifier: NCT04038138|
Recruitment Status : Not yet recruiting
First Posted : July 30, 2019
Last Update Posted : July 30, 2019
The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD.
To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria.
The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.
|Condition or disease||Intervention/treatment||Phase|
|Muscular Dystrophy Facioscapulohumeral||Diagnostic Test: Validation of FSHD in French as COA||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||30 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Clinical Trial Readiness Network FSHD France: Prospective 18 Months MRI Study|
|Estimated Study Start Date :||September 5, 2019|
|Estimated Primary Completion Date :||September 5, 2021|
|Estimated Study Completion Date :||February 5, 2022|
|Experimental: Patient with muscular dystrophy||
Diagnostic Test: Validation of FSHD in French as COA
FSHD Genetically confirmed FSHD1 or clinical diagnosis of FSHD with characteristic findings on clinical examination and an affected parent or offspring
- Validate FSHD-COM in French as COA [ Time Frame: at 18 months ]The FSHD-COM is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.
- Motor Function Measure Domain 1 [ Time Frame: at 18 months ]The MFM domain 1 is a validated evaluator administered functional measure for neuromuscular disorders, with 13 items related to standing and transfers87. There are standard instructions for administration and takes about 10 minutes to perform.
- Severity Scores (CSS) [ Time Frame: at 18 months ]A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 (CSS) or 15 point scale (FCS).
- Severity Scores (FCS) [ Time Frame: at 18 months ]A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 (CSS) or 15 point scale (FCS).
- Strength testing [ Time Frame: at 18 months ]Strength testing will be performed using manual muscle testing (MMT) and maximal isometric hand grip strength using a hand held force dynamometer, and quantitative myometry
- Fall assessments [ Time Frame: at 18 months ]Questionnaire about physical exercise will be collected at inclusion, Month 3, 12 and 18, and weekly using a patient diary between M6 and M6
- Exercise Questionnaire [ Time Frame: at 18 months ]Questionnaire about physical exercise will be collected at inclusion, Month 3, 12 and 18.
- Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) [ Time Frame: at 18 months ]is an instrument developed by the NIH PROMIS initiative. It has been tested in general populations and generates scores for physical function, and the impact of physical limitations on daily life,
- The Upper Extremity Functional Index [ Time Frame: at 18 months ]This index measures upper extremity dysfunction. 20 questions are combined into a total score, the score is transformed into a normalized score with 80 representing normal, and lower scores representing increasing disability.
- The Facial Disability Index (FDI) [ Time Frame: at 18 months ]The FDI is a short 5 item questionnaire. The five questions are summed into total score which transformed onto a percentage scale, with 100 representing normal, and lower scores representing increasing disability.
- Iowa Oral Performance Instrument (IOPI) [ Time Frame: at 18 months ]IOPI is a means to quantify lip, tongue, and buccal strength using a validated tool with published ranges for normative data for lingual measurements,
- Whole body and regional lean muscle mass (LMM) [ Time Frame: at 18 months ]Whole body and regional lean muscle mass (LMM) will be measured via Dual Energy X-Ray Absorptiometry (DEXA).
- Muscle Magnetic Resonance Imaging [ Time Frame: at 18 months ]Muscle MRI studies will be performed on a 1.5 Tesla equipment at Inclusion, Month 12 and 18,
- Respiratory Function [ Time Frame: at 18 months ]The researchers will obtain forced vital capacity and forced expiratory volume in 1 second using bedside spirometry.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04038138
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