Progression of multisystem proteinopathy type 1 (MSP1)
Natural history of multisystem proteinopathy-1
This project will track motor and other symptoms over time in adults with MSP1 caused by VCP gene variants to find reliable ways to measure change.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Miami School of Medicine NIH-funded |
| Lab location | 1 site (Coral Gables, United States) |
| Project ID | NIH-11171889 on NIH RePORTER |
What this research studies
You and other adults with MSP1 caused by a VCP missense variant will be followed at multiple centers with regular clinic visits and testing. The team will use the North Star Assessment for limb-girdle–type dystrophies (NSAD) and other clinical outcome measures to see how well they capture real changes in motor function. Researchers will document when different MSP1 features appear, how quickly they progress, and how factors like age or symptom mix affect outcomes. The study aims to define expected disease trajectories and set thresholds for what counts as a meaningful change for future trials.
Who could benefit from this research
Good fit: Adults (age 21 and over) who carry a pathogenic missense variant in the VCP gene and show clinical signs of MSP1 are the ideal candidates.
Not a fit: People without VCP-related MSP1, children under 21, or those with other forms of ALS are unlikely to directly benefit from this specific natural-history effort.
Why it matters
Potential benefit: If successful, this work could improve how clinical trials are designed and speed development of treatments targeting VCP-related MSP1.
How similar studies have performed: Motor outcome scales like the NSAD have been useful in other neuromuscular disorders and preclinical VCP-targeting therapies showed promise, but large natural-history datasets for MSP1 remain limited.
Where this research is happening
Coral Gables, United States
- University of Miami School of Medicine — Coral Gables, United States (Active)
Researchers
- Principal investigator: Alfano, Lindsay N — University of Miami School of Medicine
- Study coordinator: Alfano, Lindsay N
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.