Understanding the cause of scoliosis in patients with neurofibromatosis type 1
Official title: Characterizing the cell-of-origin for NF1 dystrophic scoliosis
Funded at Baylor College of Medicine · NIH-11052559 · Data updated 2026-11-12
This study is looking into why some people with neurofibromatosis type 1 develop severe spinal curves, and it aims to find out how changes in certain cells during development affect the spine, which could help improve treatments for those dealing with this challenging condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | April 1, 2024 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $158,400 |
| NIH project number | 5R21AR083029-02 |
| Project ID | NIH-11052559 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults diagnosed with neurofibromatosis type 1 who are experiencing dystrophic scoliosis.
✕Less likely to help
Patients without neurofibromatosis type 1 or those who do not have scoliosis may not benefit from this research.
What this research studies
This research investigates the underlying causes of dystrophic scoliosis in patients with neurofibromatosis type 1 (NF1), a condition that leads to severe spinal deformities. The team will explore how the loss of the NF1 gene in specific cells during development affects the spine's structure and function. By studying embryos and the intervertebral discs, researchers aim to identify the critical cells involved in this condition. This could lead to better understanding and potential new treatments for patients suffering from this debilitating disorder.
Why it matters
Potential benefit: If successful, this research could lead to improved treatment options and management strategies for patients with NF1 dystrophic scoliosis.
How similar studies have gone: Previous research has shown promising results in understanding genetic contributions to scoliosis, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Elefteriou, Florent — Baylor College of Medicine
- Study coordinator: Elefteriou, Florent
Related research
Other NIH-funded projects on the same topics.
-
The RESILIENT Brace for teens with scoliosis
A new flexible, adjustable scoliosis brace for adolescents to improve comfort, mobility, and real-time feedback to help keep curves from getting worse.
-
Developmental mechanisms behind adolescent idiopathic scoliosis
A program of researchers is studying why scoliosis appears in some children and aims to uncover genetic and developmental clues that could lead to better understanding and future treatments.
-
Understanding why adolescent scoliosis develops and how to prevent it
A research collaboration is studying why adolescent idiopathic scoliosis (AIS) happens and how it progresses, with the goal of finding ways to prevent and better treat it for affected children.
-
Low oxygen and mitochondria's role in spine development and congenital scoliosis
This research looks at how low oxygen and mitochondrial changes during pregnancy can disrupt early spine formation and lead to congenital scoliosis.
-
Understanding genetic causes of scoliosis
This work looks at whether genes called ADGRG6 and SOX9 and their cell signals help keep the spine straight and could lead to ways to prevent or reduce scoliosis, especially in adolescents.
-
Understanding the Causes of Adolescent Scoliosis
This program aims to uncover the genetic and developmental reasons behind adolescent idiopathic scoliosis, a common spine condition in children.
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.