The John Walton Muscular Dystrophy Research Centre (JWMDRC) has initiated a descriptive, retrospective, international multicenter study to collect data on patients affected by multisystem proteinopathies (MSPs) in all their clinical manifestations, including—but not limited to—myopathy, motor neuron disease, frontotemporal dementia, neuropathy, and Paget disease of bone.
The primary aim of this study is to assemble one of the largest retrospective cohorts of patients with MSPs in order to:
- Describe their clinical phenotypes;
- Characterize ancillary investigations, including neurophysiological studies, brain and muscle MRI, muscle biopsy, cerebrospinal fluid analyses, and neurocognitive assessments;
- Analyse family histories;
- Establish genotype–phenotype and geographic correlations;
- Validate variants of unknown significance;
- Identify novel genetic variants; and
- Compare disease trajectories across different MSPs to define disease milestones that may inform clinical practice and future clinical trial design.
We invite colleagues worldwide (Africa, Asia, Europe, North America, South America, and Australia) who have diagnosed patients with genetic variants in MSP-associated genes to participate in this international collaboration. Eligible patients include those carrying pathogenic, likely pathogenic, or variants of unknown significance in the following genes:
VCP, HNRNPA2B1, HNRNPA1, TIA1, SQSTM1, MATR3, OPTN, ANXA11, HSPB8, TFG, and TARDBP.
This study builds upon the successful experience of our centre in conducting the VCP International Multicentric Descriptive Retrospective Study, which involved more than 100 clinicians from 52 centers across 24 countries, collecting clinical and genetic data from patients with genetically confirmed VCP-related disease.
All professionals contributing to the different stages of the study will be appropriately acknowledged as co-authors in scientific publications arising from the collected data.
This project has received ethical approval and is sponsored by Newcastle University.
As MSPs are rare diseases, each patient is invaluable. We strongly believe that collaborative efforts will lead to improved patient care and a deeper, more comprehensive understanding of these disorders.
For further information or to express interest in collaboration, please contact:
- Dr. Marianela Schiava
Clinical Research Associate, JWMDRC
✉️ Marianela.schiava@newcastle.ac.uk - Prof. Jordi Díaz Manera
Professor of Neuromuscular Disorders, Translational Medicine and Genetics
Honorary Consultant in Clinical Genetics
✉️ Jordi.Diaz-Manera@newcastle.ac.uk