Natural History Study of Patients With VCP-related Disease
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|ClinicalTrials.gov Identifier: NCT04823143|
Recruitment Status : Recruiting
First Posted : March 30, 2021
Last Update Posted : March 30, 2021
|Condition or disease|
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|
|Estimated Enrollment :||20 participants|
|Official Title:||Natural History of Disease Progression in Individuals With a Confirmed Diagnosis of Disease Caused by Mutation of the Valosin Containing Protein (VCP) Gene|
|Actual Study Start Date :||March 18, 2021|
|Estimated Primary Completion Date :||March 18, 2023|
|Estimated Study Completion Date :||March 18, 2023|
- 100 meter timed test [ Time Frame: 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.
- North Star assessment for limb girdle type dystrophies (NSAD) [ Time Frame: 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 [ Time Frame: 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 [ Time Frame: 12 months ]Records the fastest time a patient can ascend 4 steps using handrails as needed.
- Performance of Upper Limb (PUL) 2.0 [ Time Frame: 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.
- 9 hole peg test [ Time Frame: 12 months ]Records the time it takes a patient to place 9 pegs in holes and remove as quickly as possible
- Forced Vital Capacity [ Time Frame: 12 months ]Records the maximum volume a patient can expire forcefully from their lungs in the seated position.
- PROMIS Global Health scale [ Time Frame: 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 [ Time Frame: 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
- Neuro-QOL Lower Extremity Function (Mobility) [ Time Frame: 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
- Rasch Overall ALS Disability Scale (ROADS) [ Time Frame: 12 months ]A 28-item patient reported measure with questions about swallowing, speaking, mobility, and upper extremity tasks.
- Neuro-QOL Cognition Function [ Time Frame: 12 months. ]A patient reported outcome with questions about a person's regular cognitive ability including reading, thinking, paying attention, and concentrating.
- EAT-10 [ Time Frame: 12 months ]A 10-item patient-reported assessment with questions related to swallowing function.
- Communicative Participation Item Bank (CPIB) [ Time Frame: 12 months ]A self-reported measure with questions related to ability to communicate, be understood, and relative difficulty or ease in communicating.
- Speech Handicap Index [ Time Frame: 12 months ]This patient-reported measure includes questions related to speech functions and abilities.
Biospecimen Retention: Samples Without DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04823143
|Contact: Lindsay Alfanoemail@example.com|
|United States, Ohio|
|Nationwide Children's Hospital||Recruiting|
|Columbus, Ohio, United States, 43205|
|Contact: Lindsay Alfano 614-722-6881 firstname.lastname@example.org|
|Principal Investigator:||Lindsay Alfano||Nationwide Children's Hospital|