Investigating a genetic cause of familial transverse myelitis
The Immunopathogenesis of Familial Transverse Myelitis Due to Mutations in VPS37a
This study is looking at how genes might play a role in transverse myelitis, a rare condition that affects the spinal cord, and it's inviting families with multiple members affected by this condition to help by sharing their genetic samples and medical histories to find out more about what causes it.
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-11012311 on NIH RePORTER |
What this research studies
This research focuses on understanding the genetic factors contributing to familial transverse myelitis, a rare autoimmune condition affecting the spinal cord. The study involves genetic sequencing of affected individuals to identify mutations, particularly in the VPS37A gene, which may play a role in the disease's development. By analyzing cases from families with multiple members affected by transverse myelitis, the research aims to uncover the underlying mechanisms and potential biomarkers for this condition. Patients may be asked to participate by providing genetic samples and medical histories to help establish a clearer link between genetics and the disease.
Who could benefit from this research
Good fit: Ideal candidates for participation include individuals with a family history of transverse myelitis or those diagnosed with the condition, particularly if they are under 21 or have a known VPS37A mutation.
Not a fit: Patients with idiopathic transverse myelitis without a familial link or those who do not carry the VPS37A mutation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and targeted treatments for patients with familial transverse myelitis.
How similar studies have performed: While research into the genetic basis of autoimmune diseases is ongoing, this specific investigation into VPS37A and familial transverse myelitis is relatively novel and has not been extensively studied.
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.