Understanding how MPZ mutations cause CMT1B and exploring gene therapy approaches
Official title: Understanding pathological mechanisms and developing novel therapeutic approaches for CMT1B disease
Funded at Research Inst Nationwide Children's Hosp · NIH-11450725 · Data updated 2026-11-12
A patient-focused research project aims to understand why MPZ gene changes cause Charcot-Marie-Tooth type 1B and to test a potential gene therapy strategy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project start | August 14, 2026 |
| Project end | June 30, 2031 |
| Funding year | 2026 |
| Award (this year) | $616,577 |
| NIH project number | 1R01NS146580-01A1 |
| Project ID | NIH-11450725 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with MPZ-related CMT1B or related MPZ mutations who could contribute patient-derived cells or organoids for study.
✕Less likely to help
People without MPZ mutations or those not contributing samples may not directly benefit.
What this research studies
This project studies how specific MPZ gene changes lead to nerve damage in CMT1B by using patient-derived nerve cell models. Researchers will create iPSC lines from patients and build nerve tissue organoids to observe myelin problems, ER stress, and Schwann cell health. The team will test a novel gene therapy approach in these models to see if it can correct the disease processes and improve nerve function.
Why it matters
Potential benefit: If successful, this work could lead to new gene therapy options that reduce nerve damage and improve function for people with CMT1B.
How similar studies have gone: Preliminary work with patient-derived cells and organoids has shown the feasibility of modeling CMT1B and testing therapies in vitro.
Where this research is happening
-
Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Rashnonejad, Afrooz — Research Inst Nationwide Children's Hosp
- Study coordinator: Rashnonejad, Afrooz
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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.