Using gene therapy to reduce a protein linked to muscle and liver diseases.
Official title: AAV mediated gene knockdown of PIK3C2B as a therapeutic strategy for X-linked myotubular myopathy and fatty liver disease
Funded at Research Inst Nationwide Children's Hosp · NIH-10890193 · Data updated 2026-11-12
This study is looking at a new gene therapy that might help people with X-linked myotubular myopathy and fatty liver disease by lowering a specific protein linked to these conditions, and it's being tested in mice to see if it can improve muscle and liver health.
Quick facts
| Grant type | R21 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 | July 18, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $125,479 |
| NIH project number | 5R21AR083252-02 |
| Project ID | NIH-10890193 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with X-linked myotubular myopathy or those experiencing fatty liver disease.
✕Less likely to help
Patients without a diagnosis of XLMTM or significant liver disease may not benefit from this research.
What this research studies
This research investigates the potential of a gene therapy approach to reduce the levels of a specific protein, PIK3C2B, which is linked to X-linked myotubular myopathy (XLMTM) and fatty liver disease. By using a viral vector to deliver the therapy, the researchers aim to improve metabolic health, reduce fat accumulation in the liver, and alleviate muscle-related disabilities associated with XLMTM. The study utilizes a newly developed mouse model to better understand the effects of this gene knockdown on both muscle and liver health, which could lead to new treatment options for affected patients.
Why it matters
Potential benefit: If successful, this research could provide a novel therapeutic strategy for patients suffering from XLMTM and related liver diseases.
How similar studies have gone: While gene therapy approaches are being explored for various conditions, this specific application targeting PIK3C2B in XLMTM and fatty liver disease is novel and has not been extensively tested in humans.
Where this research is happening
-
Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Harper, Scott Q — Research Inst Nationwide Children's Hosp
- Study coordinator: Harper, Scott Q
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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.