Two Current Research Studies are Characterizing Multisystem Proteinopathy
These two research initiatives are working to describe how multisystem proteinopathy (MSP) develops and changes over time. Both include people with variants in VCP and related genes, but they work differently. In the CReATe study, patients sign up themselves and travel to a site for testing. In the Newcastle study, a patient’s doctor signs up and provides information from questionnaires and medical records.
Natural History of MSP: CReATe Consortium
How it works: patients sign up and travel to a site for testing.
Cure VCP Disease, Inc. is partnering with the CReATe Consortium to expand its natural history study to include an MSP arm. The study is open to adults with a genetically confirmed mutation in a gene linked to MSP: VCP (MSP1/IBMPFD), HNRNPA1, HNRNPA2B1, SQSTM1, or MATR3.
The study aims to better understand how MSP changes strength and movement and how it affects daily life over time. It also collects biological specimens for future biomarker discovery.
Participation involves sharing family and personal history, providing biological samples, and completing respiratory, neurological, and neuropsychological assessments. This takes approximately five visits over 24 months, three in person and two remote, with the option to continue annual in-person visits.
At the 2026 VCP International Scientific and Community Summit, Dr. Michael Benatar of the University of Miami, a member of the CReATe Consortium, spoke about the role of natural history research: “Natural history studies are critical to develop outcome measures that are suitable for future clinical trials, to understand the phenotypic evolution of disease.”
To learn more about participating, contact projectcreate@med.miami.edu or visit the enrollment page Research Study | Clinical Research in ALS and Related Disorders for Therapeutic Development.
A Patient Travel Stipend is available for participants, thanks to generous donors.
To learn more about participating, contact projectcreate@med.miami.edu
or visit the enrollment page
A Patient Travel Stipend is available for participants, thanks to generous donors.
International MSP Study: Newcastle University
How it works: the patient’s doctor signs up, completes questionnaires, and shares medical records.
The John Walton Muscular Dystrophy Research Centre at Newcastle University has launched a descriptive, retrospective, multicentre study aimed at building one of the largest cohorts of people with MSP in the world. It will:
Describe clinical phenotypes
Characterize ancillary investigations, including neurophysiology, imaging, biopsy, and neurocognitive assessments
Analyze family histories
Establish genotype-phenotype and geographic correlations
Validate variants of unknown significance and identify novel genetic variants
Compare disease trajectories across MSPs
The study is open to eligible patients worldwide with variants in VCP and related MSP genes. Because enrollment is handled by the patient’s doctor, patients who are interested can talk with their doctor about the study.
It builds on Newcastle’s earlier VCP International Multicentric Descriptive Retrospective Study, which involved more than 100 clinicians across 52 centres in 24 countries. Professor Jordi Díaz Manera is the principal investigator.
The study aims to better understand how MSP changes strength and movement and how it affects daily life over time. It also collects biological specimens for future biomarker discovery.
Participation involves sharing family and personal history, providing biological samples, and completing respiratory, neurological, and neuropsychological assessments. This takes approximately five visits over 24 months, three in person and two remote, with the option to continue annual in-person visits.
For more information, visit the John Walton Muscular Dystrophy Research Centre announcement.
