Familial transverse myelitis linked to a VPS37A gene change
The Immunopathogenesis of Familial Transverse Myelitis Due to Mutations in VPS37a
Researchers are looking at whether a rare change in the VPS37A gene causes familial transverse myelitis in teens and adults who develop sudden spinal cord inflammation.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11252590 on NIH RePORTER |
What this research studies
If you join, the team will compare DNA from affected family members and other ITM patients to look for the VPS37A mutation and related genetic signals. They will test blood and patient cells for immune markers and signs that the mutation disrupts protein recycling in nerve cells. Laboratory models will be used to see how that disruption might trigger spinal cord inflammation and lasting nerve injury. Participation could involve genetic testing, blood draws, and sharing medical records, with visits to Massachusetts General Hospital or provision of mailed samples as needed.
Who could benefit from this research
Good fit: Ideal candidates are people with idiopathic transverse myelitis, especially those with a family history or early-onset (teenage) cases, or anyone known to carry a VPS37A variant.
Not a fit: Patients whose myelitis has a known cause such as multiple sclerosis, neuromyelitis optica, infection, or who do not carry VPS37A variants may not directly benefit from this specific work.
Why it matters
Potential benefit: If successful, this work could identify a genetic cause for some familial cases of transverse myelitis and point toward treatments that prevent or reduce long-term disability.
How similar studies have performed: This is a novel genetic link with limited prior study, so clinical benefits from targeting VPS37A remain unproven at this time.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Levy, Michael — Massachusetts General Hospital
- Study coordinator: Levy, Michael
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.