Natural History of Disease Progression in Individuals With a Confirmed Diagnosis of Disease Caused by Mutation of the Valosin Containing Protein (VCP) Gene
概览
- 阶段
- 不适用
- 干预措施
- 未指定
- 疾病 / 适应症
- IBMPFD
- 发起方
- Nationwide Children's Hospital
- 入组人数
- 44
- 试验地点
- 1
- 主要终点
- 9 hole peg test
- 状态
- 已完成
- 最后更新
- 29天前
概览
简要总结
A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year.
详细描述
This is a single site, prospective natural history study to evaluate the utility of strength, functional, and patient reported outcomes in quantifying disease progression over 1 year in patients with mutations in the VCP gene. Patients will complete a remote and onsite visits at baseline, a remote visit at 6 months, and then a final remote and onsite visit at 12 months. All strength, functional, and patient reported measures will be completed at each visit to assess reliability, consistency of results across testing environments, and sensitivity to change over time. Additionally, patients may opt in to provide blood, serum, and urine samples for biobanking.
研究者
Lindsay Alfano
Principal Investigator
Nationwide Children's Hospital
入排标准
入选标准
- •Genetically confirmed mutation in the VCP gene
- •Age ≥18 years
- •Willing and able to provide informed consent and follow all study procedures
排除标准
- •Participation in an interventional clinical trial
- •Any concomitant illness or comorbid condition that would interfere with a patient's ability to complete study procedures safely at the discretion of the site PI.
结局指标
主要结局
9 hole peg test
时间窗: 12 months
Records the time it takes a patient to place 9 pegs in holes and remove as quickly as possible
Forced Vital Capacity
时间窗: 12 months
Records the maximum volume a patient can expire forcefully from their lungs in the seated position.
North Star assessment for limb girdle type dystrophies (NSAD)
时间窗: 12 months
A 29-item assessment of functional tasks such as standing, walking, rising from floor, standing on 1 leg, etc. This assessment also includes 2 timed items: rise from floor and 10 meter walk/run. Each task is scored on a 0=unable, 1=completed with compensation, 2=completed without compensation. A total score for all items is recorded.
Timed Up and Go
时间窗: 12 months
A patient stands from a chair, walks 3 meters, and returns to sitting in the chair as quickly as possible. The time to complete is recorded.
4 stair climb
时间窗: 12 months
Records the fastest time a patient can ascend 4 steps using handrails as needed.
Performance of Upper Limb (PUL) 2.0
时间窗: 12 months
A 22-item assessment of upper extremity tasks such as lifting arms overhead, bringing a cup to mouth, tearing paper, stacking cans, etc. Each task is scored on a 0=unable, 1=completed with compensation, 2=completed without compensation. A total score for all items is recorded.
PROMIS Global Health scale
时间窗: 12 months
10 item patient reported measure with questions about a patient's rating of overall health, quality of life, and ability to complete and participate in regular activities.
Neuro-QOL Upper Extremity Function
时间窗: 12 months
A patient reported outcome with questions about a person's ability to complete activities of daily living including bathing, dressing, turning a key in a lock, etc
100 meter timed test
时间窗: 12 months
Patients will complete 100-meter walk/run on a 25-meter course as quickly as possible, safely. The time to complete is recorded.
EAT-10
时间窗: 12 months
A 10-item patient-reported assessment with questions related to swallowing function.
Neuro-QOL Lower Extremity Function (Mobility)
时间窗: 12 months
A patient reported outcome with questions about a person's ability to complete mobility activities such as stepping up on curbs, transfers, pushing open doors, etc
Speech Handicap Index
时间窗: 12 months
This patient-reported measure includes questions related to speech functions and abilities.
Rasch Overall ALS Disability Scale (ROADS)
时间窗: 12 months
A 28-item patient reported measure with questions about swallowing, speaking, mobility, and upper extremity tasks.
Neuro-QOL Cognition Function
时间窗: 12 months.
A patient reported outcome with questions about a person's regular cognitive ability including reading, thinking, paying attention, and concentrating.
Communicative Participation Item Bank (CPIB)
时间窗: 12 months
A self-reported measure with questions related to ability to communicate, be understood, and relative difficulty or ease in communicating.