A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year.
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.
Study Type
OBSERVATIONAL
Enrollment
44
Nationwide Children's Hospital
Columbus, Ohio, United States
100 meter timed test
Patients will complete 100-meter walk/run on a 25-meter course as quickly as possible, safely. The time to complete is recorded.
Time frame: 12 months
North Star assessment for limb girdle type dystrophies (NSAD)
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.
Time frame: 12 months
Timed Up and Go
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.
Time frame: 12 months
4 stair climb
Records the fastest time a patient can ascend 4 steps using handrails as needed.
Time frame: 12 months
Performance of Upper Limb (PUL) 2.0
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.
Time frame: 12 months
9 hole peg test
Records the time it takes a patient to place 9 pegs in holes and remove as quickly as possible
Time frame: 12 months
Forced Vital Capacity
Records the maximum volume a patient can expire forcefully from their lungs in the seated position.
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Time frame: 12 months
PROMIS Global Health scale
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.
Time frame: 12 months
Neuro-QOL Upper Extremity Function
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
Time frame: 12 months
Neuro-QOL Lower Extremity Function (Mobility)
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
Time frame: 12 months
Rasch Overall ALS Disability Scale (ROADS)
A 28-item patient reported measure with questions about swallowing, speaking, mobility, and upper extremity tasks.
Time frame: 12 months
Neuro-QOL Cognition Function
A patient reported outcome with questions about a person's regular cognitive ability including reading, thinking, paying attention, and concentrating.
Time frame: 12 months.
EAT-10
A 10-item patient-reported assessment with questions related to swallowing function.
Time frame: 12 months
Communicative Participation Item Bank (CPIB)
A self-reported measure with questions related to ability to communicate, be understood, and relative difficulty or ease in communicating.
Time frame: 12 months
Speech Handicap Index
This patient-reported measure includes questions related to speech functions and abilities.
Time frame: 12 months