Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkin...
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| Language: | English |
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Wiley
2025-07-01
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| Series: | Annals of Clinical and Translational Neurology |
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| Online Access: | https://doi.org/10.1002/acn3.70064 |
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| author | Lindsay N. Alfano Megan A. Iammarino Natalie F. Reash Linda P. Lowes Lindsay Pietruszewski Kathleen Adderley Lauren Humphrey Audrey B. Knight Christopher L. Steiner Melissa A. Smith Zarife Sahenk Anne M. Connolly Momen Almomen Eleonora S. D'Ambrosio Nathan Peck Allison Peck |
| author_facet | Lindsay N. Alfano Megan A. Iammarino Natalie F. Reash Linda P. Lowes Lindsay Pietruszewski Kathleen Adderley Lauren Humphrey Audrey B. Knight Christopher L. Steiner Melissa A. Smith Zarife Sahenk Anne M. Connolly Momen Almomen Eleonora S. D'Ambrosio Nathan Peck Allison Peck |
| author_sort | Lindsay N. Alfano |
| collection | DOAJ |
| description | ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others. Our study aimed to validate functional clinical outcome assessments (COA) and patient‐reported outcomes (PRO) to inform clinical care practices and future clinical trial design. In addition, we evaluated the test–retest reliability of these COAs within clinics and remote environments. Methods Patients completed a battery of COA and PRO across a 2‐day traditional onsite visit and a 2‐day remote visit within their home environment. All COA and PRO deemed safe and feasible to complete based on participants' level of function and/or home environment were collected at each visit. Results Forty‐six total patients enrolled in our study, 34 in our full study and 12 in an expanded remote‐only cohort. Functional COA measured decline over reported disease duration in this cross‐sectional group and significantly correlated with PRO (rho > 0.5, p < 0.001). Differences in lower and upper extremity involvement were noted across variant groups. Performance of functional COA was reliable and safe within and across onsite and remote testing environments (ICC > 0.7, p < 0.001). Interpretation Functional COA and PRO are valid and reliable to measure abilities in participants with MSP1. Testing can be completed reliably within the home, which could expand equitable access to clinical care and/or future clinical trial participation. Prospective longitudinal data collection is ongoing to understand outcome sensitivity and meaningful change over time. |
| format | Article |
| id | doaj-art-b2ac94a3d1cf4a80a2fc57e89c4c1759 |
| institution | Kabale University |
| issn | 2328-9503 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj-art-b2ac94a3d1cf4a80a2fc57e89c4c17592025-08-20T03:50:31ZengWileyAnnals of Clinical and Translational Neurology2328-95032025-07-011271324133310.1002/acn3.70064Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1Lindsay N. Alfano0Megan A. Iammarino1Natalie F. Reash2Linda P. Lowes3Lindsay Pietruszewski4Kathleen Adderley5Lauren Humphrey6Audrey B. Knight7Christopher L. Steiner8Melissa A. Smith9Zarife Sahenk10Anne M. Connolly11Momen Almomen12Eleonora S. D'Ambrosio13Nathan Peck14Allison Peck15Jerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USAJerry R. Mendell Center for Gene Therapy The Abigail Wexner Research Institute at Nationwide Children's Hospital Columbus Ohio USACure VCP Disease Warner Robins Georgia USACure VCP Disease Warner Robins Georgia USAABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others. Our study aimed to validate functional clinical outcome assessments (COA) and patient‐reported outcomes (PRO) to inform clinical care practices and future clinical trial design. In addition, we evaluated the test–retest reliability of these COAs within clinics and remote environments. Methods Patients completed a battery of COA and PRO across a 2‐day traditional onsite visit and a 2‐day remote visit within their home environment. All COA and PRO deemed safe and feasible to complete based on participants' level of function and/or home environment were collected at each visit. Results Forty‐six total patients enrolled in our study, 34 in our full study and 12 in an expanded remote‐only cohort. Functional COA measured decline over reported disease duration in this cross‐sectional group and significantly correlated with PRO (rho > 0.5, p < 0.001). Differences in lower and upper extremity involvement were noted across variant groups. Performance of functional COA was reliable and safe within and across onsite and remote testing environments (ICC > 0.7, p < 0.001). Interpretation Functional COA and PRO are valid and reliable to measure abilities in participants with MSP1. Testing can be completed reliably within the home, which could expand equitable access to clinical care and/or future clinical trial participation. Prospective longitudinal data collection is ongoing to understand outcome sensitivity and meaningful change over time.https://doi.org/10.1002/acn3.70064functionnatural historyVCP‐associated multisystem proteinopathy |
| spellingShingle | Lindsay N. Alfano Megan A. Iammarino Natalie F. Reash Linda P. Lowes Lindsay Pietruszewski Kathleen Adderley Lauren Humphrey Audrey B. Knight Christopher L. Steiner Melissa A. Smith Zarife Sahenk Anne M. Connolly Momen Almomen Eleonora S. D'Ambrosio Nathan Peck Allison Peck Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1 Annals of Clinical and Translational Neurology function natural history VCP‐associated multisystem proteinopathy |
| title | Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1 |
| title_full | Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1 |
| title_fullStr | Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1 |
| title_full_unstemmed | Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1 |
| title_short | Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1 |
| title_sort | validity and reliability of clinical and patient reported outcomes in multisystem proteinopathy 1 |
| topic | function natural history VCP‐associated multisystem proteinopathy |
| url | https://doi.org/10.1002/acn3.70064 |
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