Natural History Study of Patients With VCP-related Disease

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

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

Study Overview

• Status: Completed
• Conditions: 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.

• Study Type: Observational
• Enrollment (Actual): 44

Contacts and Locations

Study Locations

• United States
  • Ohio
    • Columbus, Ohio, United States, 43205
      • Nationwide Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• 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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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.	12 months
4 stair climb	Records the fastest time a patient can ascend 4 steps using handrails as needed.	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.	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	12 months
Forced Vital Capacity	Records the maximum volume a patient can expire forcefully from their lungs in the seated position.	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.	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	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	12 months
Rasch Overall ALS Disability Scale (ROADS)	A 28-item patient reported measure with questions about swallowing, speaking, mobility, and upper extremity tasks.	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.	12 months.
EAT-10	A 10-item patient-reported assessment with questions related to swallowing function.	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.	12 months
Speech Handicap Index	This patient-reported measure includes questions related to speech functions and abilities.	12 months

Collaborators and Investigators

• Sponsor: Nationwide Children's Hospital
• Investigators: Principal Investigator: Lindsay Alfano, Nationwide Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): March 18, 2021
• Primary Completion (Actual): August 31, 2025
• Study Completion (Actual): August 31, 2025

Study Registration Dates

• First Submitted: March 26, 2021
• First Submitted That Met QC Criteria: March 29, 2021
• First Posted (Actual): March 30, 2021

Study Record Updates

• Last Update Posted (Actual): April 3, 2026
• Last Update Submitted That Met QC Criteria: March 30, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
• Other Study ID Numbers: VCP-00-001

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No