Establishing clinical trial readiness for valosin containing protein-associated multisystem proteinopathy: baseline results from a 1-year study


Clinical Trials

Poster Number: 87


Lindsay Alfano, DPT, PCS, Nationwide Children's Hospital, Allison Peck, Cure VCP Disease, Megan Iammarino, DPT, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Sujata Patel, RhP, LFMP, Cure VCP Disease, Natalie Reash, DPT, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Momen Almomen, MD, Jerry Mendell, MD, Nationwide Children’s Hospital, Linda Lowes, PhD, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Nathan Peck, Cure VCP Disease, Inc.

Background: Valosin containing protein-associated multisystem proteinopathy (VCP-MSP), also known as inclusion body myopathy with Paget’s Disease of the bone and frontotemporal dementia (IBMPFD), is a rare disorder of multisystemic involvement resulting in progressive weakness, cardiac, respiratory, and/or bulbar dysfunction. Patient disease onset and presentation is heterogeneous, highlighting the need for a prospective clinical trial readiness study.

Objective: To quantify disease progression using functional clinical outcome assessments and patient-reported measures to inform future clinical trial design for patients with VCP-MSP. Additionally, we sought to evaluate the feasibility and validity of functional testing performed at onsite and remote visits.

Results: 25 subjects (mean age: 52.3 years (range: 35-66)) with genetically-confirmed VCP-MSP completed 4 visits at baseline, including 2-day remote and onsite baseline visits within a 4 week window. A battery of outcomes were completed at each visit. Test-retest reliability was excellent within and between visit types (ICC?0.8; P<0.001). Cohort level feasibility and performance of all outcomes will be presented.

Conclusions: Performance of most outcomes was the same across remote and onsite environments. Two of the functional assessments were slightly more variable in the home environment when compared to onsite visits, highlighting the need for standardized equipment and furniture when implemented in clinical trials. Further research is ongoing to identify which COA are most sensitive to change over time in this patient population.