NCT04823143

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 44 (actual)
• Sponsor: Nationwide Children's Hospital · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• IBMPFD

Timeline

• Start date: 2021-03-18
• Primary completion: 2025-08-31
• Completion: 2025-08-31
• First posted: 2021-03-30
• Last updated: 2026-04-03

Locations

1 site across 1 country: United States