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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
Sponsor:
Information provided by (Responsible Party):
Lindsay Alfano, Nationwide Children's Hospital

Brief Summary:
A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year.

Condition or disease
IBMPFD

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Cohort
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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. 4 stair climb [ Time Frame: 12 months ]
    Records the fastest time a patient can ascend 4 steps using handrails as needed.

  5. 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.

  6. 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

  7. Forced Vital Capacity [ Time Frame: 12 months ]
    Records the maximum volume a patient can expire forcefully from their lungs in the seated position.

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. 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.

  13. EAT-10 [ Time Frame: 12 months ]
    A 10-item patient-reported assessment with questions related to swallowing function.

  14. 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.

  15. Speech Handicap Index [ Time Frame: 12 months ]
    This patient-reported measure includes questions related to speech functions and abilities.


Biospecimen Retention:   Samples Without DNA
Patients opting in to biosample collection will provide blood, serum, and urine samples for biobanking.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients meeting eligibility criteria and able to travel to Columbus Ohio for onsite visits.
Criteria

Inclusion Criteria:

  • Genetically confirmed mutation in the VCP gene
  • Age ≥18 years
  • Willing and able to provide informed consent and follow all study procedures

Exclusion Criteria:

  • 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.

Information from the National Library of Medicine

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


Contacts
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Contact: Lindsay Alfano 6147226881 nmdtrialinfo@nationwidechildrens.org

Locations
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United States, Ohio
Nationwide Children's Hospital Recruiting
Columbus, Ohio, United States, 43205
Contact: Lindsay Alfano    614-722-6881    nmdtrialinfo@nationwidechildrens.org   
Sponsors and Collaborators
Nationwide Children's Hospital
Investigators
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Principal Investigator: Lindsay Alfano Nationwide Children's Hospital
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Responsible Party: Lindsay Alfano, Principal Investigator, Nationwide Children's Hospital
ClinicalTrials.gov Identifier: NCT04823143    
Other Study ID Numbers: VCP-00-001
First Posted: March 30, 2021    Key Record Dates
Last Update Posted: March 30, 2021
Last Verified: March 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No