Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 80
- 试验地点
- 7
- 主要终点
- Pediatric FSHD-COM
研究概览
简要总结
The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD
详细描述
MOVE Peds is a prospective 2-year study recruiting eighty pediatric participants to accelerate therapeutic development for pediatric-onset FSHD. The study aims to validate outcomes and refine clinical trial strategies. Previous cross-sectional studies suggest that younger age of onset is linked to greater clinical severity and that having 1-3 D4Z4 repeats is associated with extra-muscular complications in pediatric FSHD.
Prospective studies in early-onset FSHD have been limited by the small number of sites and low recruitment and follow-up rates. Early-onset pediatric FSHD is of high interest to drug companies because:
- It results in a more significant disease burden than in adults.
- Treating FSHD at earlier ages may have a more lasting and profound effect.
- Genetic, molecular, and clinical factors may differ between pediatric and adult-onset FSHD.
- Smaller body size and faster progression rates may make AAV-delivered gene therapies more feasible.
The FSHD CTRN's previous research showed that the FSHD composite functional measure (FSHD-COM), reachable workspace (RWS), and quantitative MRI measures (qMRI) are responsive to disease progression or treatment in adults with FSHD and correlate with performance. Investigators hypothesize that early changes in qMRI in pediatric subjects will predict 2-year changes in FSHD-COM Peds or RWS.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 5-17 years.
- •Genetically confirmed FSHD (types 1 or 2).
- •Symptomatic weakness (facial, shoulder, core, or limb weakness)
- •Able to complete a 10-meter walk without the support of another person in less than 12 seconds (canes, walking sticks, and braces allowed; no walker). In order to include early onset participants up to 8 individuals will be entered with baseline 10MWR > 12 seconds or who are no longer ambulatory (≤10%)
排除标准
- •Unwilling or unable to provide informed consent or assent. Any other medical condition which in the opinion of the investigator would interfere with study participation.
- •Malignancy with ongoing treatment with chemotherapeutic agents or anabolic agents
- •Use of immunosuppressants including prednisone or performance enhancing drugs including testosterone within 6 months
- •Pregnancy
- •Recent or ongoing infection
- •Presence of contraindication to performance of MRI: pacemaker, metallic foreign body in eye, brain aneurysm clip (unless documented as MRI compatible)
- •In the opinion of the investigator unable to follow directions for standardized testing
- •Note: Not being able to complete MRI will not result in a screen failure. If subject is not able to complete the procedure due to fear or anxiety, they will have the opportunity to try again at later visits. However, Subject must be willing to attempt to perform the MRI to meet inclusion/exclusion criteria
研究组 & 干预措施
Cohort One
Cohort One will be individuals who are able to complete the 10 meter walk/run test in less than twelve seconds
Cohort Two
cohort two will be individuals who complete the 10 meter walk/run test in more than 12 seconds or is no longer able to complete.
结局指标
主要结局
Pediatric FSHD-COM
时间窗: Baseline-2 years
Investigators will collect the FSH-Composite outcome measure for children and adolescents. This measure assesses multiple body regions identified as important by patients, including leg function, shoulder and arm function, trunk function, hand function, and functional balance. The FSHD-COM Peds has been modified to include lighter weights for shoulder abduction and flexion, as well as elbow flexion, to accommodate the motor development and lower strength levels seen in children. Although the FSHD-COM Peds involves different measurements for each body region, these measurements are combined to produce a single composite score. The total score for the FSHD-COM Peds is out of 84, representing one comprehensive outcome measure
Reachable Work Space
时间窗: Baseline-2 years
Subjects are seated in front of a stereo-camera and perform a standardized upper extremity movement protocol under the supervision of a study clinical evaluator. Five-hundred-gram wrist weights will be added. The standardized simple set of movements consist of lifting the arm from the resting position to above the head while keeping the elbow extended, performing the same movement in vertical planes at around 0, 45, 90, 135 degrees. The second set of movements consists of horizontal sweeps at the level of the umbilicus and shoulder.
次要结局
- Quantitative MRI (qMRI) Fat Fraction %(Baseline-2 years)
- Quantitative MRI (qMRI) Lean Muscle Volume (mL)(Baseline-2 years)
- Quantitative MRI (qMRI) Total Volume(Baseline-2 years)
- Quantitative MRI (qMRI) STIR+ ( %)(Baseline-2 years)
研究者
Jeffrey Statland
Professor
University of Kansas Medical Center