Natural History Study of Patients With VCP-related Disease

Nationwide Children's Hospital

Status: Active, not recruiting

Conditions: IBMPFD

Study type: Observational

Funder types: Other

Identifiers

NCT04823143

VCP-00-001

Details and patient eligibility

About

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

Full 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.

Enrollment: 44 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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.