Skip to main content
OpenTrials
Completed

NCT Number: NCT04823143

Natural History Study of Patients With VCP-related Disease

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

Completed

Looking for future studies?

Notify Me

Key information

Conditions

IBMPFD Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  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.

Sponsors and collaborators

Lead sponsor

Nationwide Children's Hospital

Other

Registry information

Official study title

Natural History of Disease Progression in Individuals With a Confirmed Diagnosis of Disease Caused by Mutation of the Valosin Containing Protein (VCP) Gene

Important dates

Study start
2021
Primary completion
2025
Study completion
2025
First posted
Mar 30, 2021
Registry last updated
Apr 3, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.