IBMPFDNCT04823143
Natural History Study of Patients With VCP-related Disease
An observational study of IBMPFD, run by Nationwide Children's Hospital at 1 site in United States.
Trial summary
A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- IBMPFD
- How many people
- 44 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Mar 2021to 31 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients meeting eligibility criteria and able to travel to Columbus Ohio for onsite visits.
Who may be able to join
- Genetically confirmed mutation in the VCP gene
- Age ≥18 years
- Willing and able to provide informed consent and follow all study procedures
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
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
A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year.
Read the 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.
- Conditions
- IBMPFD
- Medical subject headings
- Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 12 months
4 stair climb
Records the fastest time a patient can ascend 4 steps using handrails as needed.
Measured: 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.
Measured: 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
Measured: 12 months
Forced Vital Capacity
Records the maximum volume a patient can expire forcefully from their lungs in the seated position.
Measured: 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.
Measured: 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
Measured: 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
Measured: 12 months
Rasch Overall ALS Disability Scale (ROADS)
A 28-item patient reported measure with questions about swallowing, speaking, mobility, and upper extremity tasks.
Measured: 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.
Measured: 12 months.
EAT-10
A 10-item patient-reported assessment with questions related to swallowing function.
Measured: 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.
Measured: 12 months
Speech Handicap Index
This patient-reported measure includes questions related to speech functions and abilities.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Mar 2021
- Study start18 Mar 2021
- Primary completion31 Aug 2025
- Study completion31 Aug 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for IBMPFDStudies of the same condition, open and under way.
- More trials run by Nationwide Children's HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 44 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lindsay Alfano, Nationwide Children's Hospital
- Investigators
- Lindsay Alfano, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04823143
- Sponsor's protocol ID
- VCP-00-001
- Status last verified
- Mar 2026
- First submitted
- 26 Mar 2021
- Last updated
- 3 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04823143
- Acronym / sponsor ID
- VCP-00-001
- Conditions
- IBMPFD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 44 participants (actual)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Study start
- 18 Mar 2021 (actual)
- Primary completion
- 31 Aug 2025 (actual)
- Study completion
- 31 Aug 2025 (actual)
- First posted
- 30 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
A natural history study to understand the expected progression of disease in patients with confirmed mutations in the VCP gene over 1 year.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients meeting eligibility criteria and able to travel to Columbus Ohio for onsite visits.
Key inclusion criteria (3 listed)
- Genetically confirmed mutation in the VCP gene
- Age ≥18 years
- Willing and able to provide informed consent and follow all study procedures
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2026.
Related trials for IBMPFD
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
RecruitingObservational study
Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)
Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia, Paget Disease of Bone
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Lindsay Alfano principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of IBMPFD, run by Nationwide Children's Hospital at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
100 meter timed test (time frame: 12 months). The study lists 15 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2026.