Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy
Abstract Background VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exhibit one or more of the following primary features: inclusion body m...
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BMC
2025-04-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03567-w |
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| author | Eiman Abdoalsadig Merwa Hamid Allison Peck Leepakshi Johar Virginia Kimonis |
| author_facet | Eiman Abdoalsadig Merwa Hamid Allison Peck Leepakshi Johar Virginia Kimonis |
| author_sort | Eiman Abdoalsadig |
| collection | DOAJ |
| description | Abstract Background VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exhibit one or more of the following primary features: inclusion body myopathy, Paget’s disease of bone (PDB), Frontotemporal dementia, and amyotrophic lateral sclerosis. Due to its progressive nature, death normally occurs in their sixties due to respiratory and cardiac failure. The purpose of this study is to utilize the Cure VCP Disease patient registry hosted by the Coordination of Rare Diseases at Sanford (CoRDS) to conduct a prospective natural history study. Methods Seventy-nine participants enrolled in the patient registry and answered demographic, VCP variant type, Patient-reported outcome measures (PROMs), and quality of life (QOL) questionnaires over the course of 3 years. We additionally investigated if any sex differences existed and if genotype–phenotype correlations affected the rate of progression of the varying clinical manifestations. Results Overall, participants’ mobility declined significantly as the disease progressed. Participants reported a 0.6% decline in upper extremity function, 1.2% decline in lower extremity function, and 0.3% decline in cognitive function per year of age. Furthermore, participants reported a 1.6% decline in upper and lower extremity function and a 0.1% decline in cognitive function per year of disease duration. The highest PROMs correlations were noted between overall health and lower extremity function, upper extremity function, fatigue, and the ability to perform vigorous activities. Genotype–phenotype correlations revealed no significant differences except for the absence of PDB in the p.Arg159Cys group. Conclusion The VCP CoRDS Registry was found to be a valuable tool for monitoring the QOL in patients with VCP disease and capturing patient perspectives for future clinical trials. |
| format | Article |
| id | doaj-art-dd0a035f34cb4e2e8c4fe38d1736c6f9 |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-dd0a035f34cb4e2e8c4fe38d1736c6f92025-08-20T03:18:34ZengBMCOrphanet Journal of Rare Diseases1750-11722025-04-0120111510.1186/s13023-025-03567-wUtilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathyEiman Abdoalsadig0Merwa Hamid1Allison Peck2Leepakshi Johar3Virginia Kimonis4Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California IrvineDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California IrvineCure VCP Disease, Inc.Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California IrvineDivision of Genetics and Genomic Medicine, Department of Pediatrics, University of California IrvineAbstract Background VCP disease, also known as multisystem proteinopathy, is a rare, autosomal dominant, adult-onset, neuromuscular disease that is caused by variants in the valosin-containing protein (VCP) gene. VCP disease may exhibit one or more of the following primary features: inclusion body myopathy, Paget’s disease of bone (PDB), Frontotemporal dementia, and amyotrophic lateral sclerosis. Due to its progressive nature, death normally occurs in their sixties due to respiratory and cardiac failure. The purpose of this study is to utilize the Cure VCP Disease patient registry hosted by the Coordination of Rare Diseases at Sanford (CoRDS) to conduct a prospective natural history study. Methods Seventy-nine participants enrolled in the patient registry and answered demographic, VCP variant type, Patient-reported outcome measures (PROMs), and quality of life (QOL) questionnaires over the course of 3 years. We additionally investigated if any sex differences existed and if genotype–phenotype correlations affected the rate of progression of the varying clinical manifestations. Results Overall, participants’ mobility declined significantly as the disease progressed. Participants reported a 0.6% decline in upper extremity function, 1.2% decline in lower extremity function, and 0.3% decline in cognitive function per year of age. Furthermore, participants reported a 1.6% decline in upper and lower extremity function and a 0.1% decline in cognitive function per year of disease duration. The highest PROMs correlations were noted between overall health and lower extremity function, upper extremity function, fatigue, and the ability to perform vigorous activities. Genotype–phenotype correlations revealed no significant differences except for the absence of PDB in the p.Arg159Cys group. Conclusion The VCP CoRDS Registry was found to be a valuable tool for monitoring the QOL in patients with VCP disease and capturing patient perspectives for future clinical trials.https://doi.org/10.1186/s13023-025-03567-wVCPInclusion body myopathyPaget’s disease of boneFrontotemporal dementia (IBMPFD)Amyotrophic lateral sclerosis (ALS)Multisystem proteinopathy |
| spellingShingle | Eiman Abdoalsadig Merwa Hamid Allison Peck Leepakshi Johar Virginia Kimonis Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy Orphanet Journal of Rare Diseases VCP Inclusion body myopathy Paget’s disease of bone Frontotemporal dementia (IBMPFD) Amyotrophic lateral sclerosis (ALS) Multisystem proteinopathy |
| title | Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy |
| title_full | Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy |
| title_fullStr | Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy |
| title_full_unstemmed | Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy |
| title_short | Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy |
| title_sort | utilization of cords registry to monitor quality of life in patients with vcp multisystem proteinopathy |
| topic | VCP Inclusion body myopathy Paget’s disease of bone Frontotemporal dementia (IBMPFD) Amyotrophic lateral sclerosis (ALS) Multisystem proteinopathy |
| url | https://doi.org/10.1186/s13023-025-03567-w |
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